Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000766202 | SCV001194269 | uncertain significance | Dyschromatosis universalis hereditaria 1 | 2019-10-18 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Dyschromatosis universalis hereditaria 1, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM1-Supporting. |
OMIM | RCV000766202 | SCV000897633 | pathogenic | Dyschromatosis universalis hereditaria 1 | 2019-06-24 | no assertion criteria provided | literature only |