Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001332517 | SCV001524866 | pathogenic | Cholestasis, progressive familial intrahepatic, 4 | 2020-01-31 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001780252 | SCV002018972 | pathogenic | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing |