Table 1.
Summary of ClinGen Clinical Domain Working Groups (as of 05/2018)
| Year Est. | Members | Countries | Variants deposited* | Genes curated | Variants curated | |
|---|---|---|---|---|---|---|
| Cardiovascular | 2013 | 115 | 21 | 2907 | 128 | 154 |
| Inborn Errors of Metabolism | 2014 | 22 | 2 | 35 | 8 | 800 |
| Hereditary Cancer | 2014 | 85 | 8 | 45 | 102 | 93 |
| Somatic Cancer | 2015 | 60 | 1 | 0 | 0 | 0 |
| Neurodevelopmental Disorders | 2016 | 54 | 11 | 0 | 51 | 0 |
| Hearing Loss | 2016 | 39 | 8 | 0 | 142 | 51 |
| Hemostasis & Thrombosis | 2018 | 33 | 7 | 0 | 0 | 0 |
*
Refers to the submission of unique variants and variant assertions made at the Variant Curation Expert Panel level to the ClinVar database, as opposed to variants that have been curated prior to depositing into ClinVar at the Expert Panel level.