Working Group Initiatives & Updates

  • Actionability Working Group Documents
    Additional information about Actionability Working Group Documents available by clicking the link above.
  • Actionability Working Group Evidence-based Summaries
    The summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. A protocol guides the summary development
  • Broad Data Sharing Consent
    The Education WG is developing a one-page consent form with supplemental online material to facilitate broad genomic data sharing in the clinical setting.
  • Cardiovascular Abstracts and Publications
    TitleAuthorsMeetingDateCityType of PresentationLack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants. Coll...
  • Cardiovascular In-Person Meetings
    Additional information about Cardiovascular In-Person Meetings available by clicking the link above.
  • ClinGen Data Exchange Website
    Documents the models created by the Data Exchange Working Group
  • Experimental Validation
    MotivationValidation of computational predictions of the clinical significance of genetic variants is an essential step in determining the clinical utility of these approaches. For many variants, experimental functional studies will play an important role
  • Gene-Level Modeling
    MotivationVariants in coding and regulatory regions of genes are likely to be the most relevant for disease association. While many bioinformatics tools have been developed for predicting the effect of missense mutations, their accuracy is still far from
  • Genome-Wide Modeling
    MotivationInterpreting the clinical significance of rare and novel genetic variants identified in whole-genome sequencing studies remains a critical challenge for patient care. Methods to predict the clinical significance of genetic variants that...
  • GenomeConnect
    Visit GenomeConnect, a unique patient registry that allows individuals to share their genetic and health information with researchers, clinicians, and others.
  • Genomic Resources Search
    The Genomic Resources Search interface supports clinical genomics information needs by aiding the search for answers to genomics questions. By entering a disorder, a medication or a gene name, the user can search available ClinGen resources and many of th
  • Phenotype Submission Resources
    Additional information about Phenotype Submission Resources available by clicking the link above.
  • Preferred Condition List for ClinVar Submissions
    ClinGen has a list of approximately 240 genes, including the ACMG 56 genes related to actionable secondary findings on exome sequencing. Many of the genes are associated with the conditions most frequently submitted to ClinVar. In many cases, different Cl
  • Videos
    Learn more about various aspects of ClinGen through the videos on our YouTube channel!  If you have a suggestion for a future video topic, please contact us at clingen@clinicalgenome.org.
Actionability

Actionability

Aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

Learn more
Ancestry and Diversity

Ancestry and Diversity

The Ancestry and Diversity Working Group (ADWG) works to ensure that genomic medicine is effective to everyone, regardless of race, ethnicity or ancestral background. 

Learn more
Biocurator Working Group

Biocurator Working Group

The ClinGen Biocurator WG provides a forum for education, training, and support for all ClinGen gene and variant biocurators, and currently has a membership of over 100 curators.

Learn more
Clinical Domain Working Groups

Clinical Domain Working Groups

Curate clinical validity and clinical features of gene/phenotype pairs within distinct clinical domains

Learn more
Copy Number Variant Interpretation Guidelines

Copy Number Variant Interpretation Guidelines

Develop a systematic framework for the clinical interpretation of cytogenomic copy number variants.

Learn more
Data Exchange

Data Exchange

Provide a common set of definitions and consistent representation of core concepts, attributes and terminology to support ClinGen and harmonize with relevant standards efforts.

Learn more
Dosage Sensitivity Curation

Dosage Sensitivity Curation

Evaluate the evidence supporting or refuting the dosage sensitivity of individual genes and genomic regions. 

Learn more
Education

Education

Aims to foster community engagement in all aspects of the ClinGen project through education, outreach, and resource development

Learn more
EHR

EHR

Ensure that the ClinGen resource is designed to be accessible to providers and patients through electronic health record and related systems. Learn more
CADRe (Consent & Disclosure Recommendations)

CADRe (Consent & Disclosure Recommendations)

Aims to explore the ethical, legal, and social (ELSI) issues relating to reporting the actionability of particular genes/variants in the clinical care process.  Learn more
External Scientific Panel

External Scientific Panel

Scientific and technical advisors supporting ClinGen's key goals and overall mission. Learn more
Gene Curation

Gene Curation

Develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project. 

Learn more
​Genomic Variant

​Genomic Variant

Guide improvement and enhancement of the sequence variant guidelines and support standardization of copy number interpretation.

Learn more
Informatics & Analysis

Informatics & Analysis

Aims to coordinate the acquisition, analysis, and dissemination of ClinGen resource data. Learn more
Lumping and Splitting

Lumping and Splitting

The Lumping and Splitting Working Group provides guidance for defining and refining disease entities for gene-disease classifications and partners with nosological and ontological authorities for the coordination of disease entity categorization and classification.

Learn more
Sequence Variant Inter-Laboratory Discrepancy Resolution

Sequence Variant Inter-Laboratory Discrepancy Resolution

Resolve variants with interpretation differences in ClinVar

Learn more
Sequence Variant Interpretation

Sequence Variant Interpretation

Guide improvement and enhancement of the ACMG Interpreting Sequence Variant Guidelines. 

Learn more
Software Alignment

Software Alignment

Centralizes communication between ClinGen’s major efforts for the purpose of understanding each of these group’s objectives, needs, and software challenges in order to align them in a manner that most effectively and efficiently supports ClinGen’s mission.

Learn more
Somatic Cancer

Somatic Cancer

The Cancer Somatic Workgroup is responsible for ensuring the appropriate annotation and interpretation of cancer somatic variants for clinical applications and development of practice guidelines.

Learn more
Steering Committee

Steering Committee

Provides oversight, guidance, and executive decisions regarding the activities and direction of the ClinGen Resource.

Learn more