Copy Number Variant Interpretation Guidelines
The Copy Number Variant Interpretation Guidelines WG is developing a systematic framework for the clinical interpretation of cytogenomic copy number variants.
Documents
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ClinVar Submission Template, CNV fields highlighted (October 2016) (xlsx)Data Sharing Resources - March 12, 2016 - Be sure to download the latest ClinVar submission template from the ClinVar FTP site. An example spreadsheet (current October 2016) is provided below; fields that are relevant for copy number variant submissions are highlighted in gree (required) and light green (optional). Upload your file to the ClinVar Submission Portal. If you have any questions or problems, contact ClinVar at clinvar@ncbi.nlm.nih.gov.
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Swaroop Aradhya, PhD
Daniel Pineda-Alvarez, MD
Erin Rooney Riggs, MS, CGC
Erica Andersen, PhD
Athena Cherry
Sibel Kantarci, PhD, FACMG
Hutton Kearney, PhD
Charles Lee, PhD
Christa Lese Martin, PhD, FACMG
Gordana Raca, PhD
Deborah Ritter, PhD
Sarah South, PhD
Erik Thorland, PhD