ClinGen and Genetic Testing

Excerpt mentioning ClinGen:  Although it is difficult to collect enough families for every variant, diagnostic laboratories are accumulating evidence at an astounding rate and through collaborative efforts will substantially increase our knowledge of the tolerance for variability for each residue, domain, or gene. To accomplish this, laboratories must do periodic reassessments of variants to keep curated and updated databases and, most importantly, must share this information with public databases such as ClinVar, described by Rehm et al. (June 4 issue),4 or with international consortiums such as the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA).5 This will allow the medical community to obtain data to better understand the clinical significance of genomic variance.