Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623489 | SCV000741055 | pathogenic | Inborn genetic diseases | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Institute for Human Genetics and Genomic Medicine, |
RCV003444001 | SCV004171035 | pathogenic | Aortic valve disease 1 | 2023-11-14 | criteria provided, single submitter | clinical testing | The variant is not present in the general population (gnomAD). It is not listed in the dbSNP151 database. The variant has been reported twice as pathogenic in the ClinVar database (Variation ID 520784), but without a phenotypic description or in a different clinical context. In the literature, the variant has already been reported in a patient with aortic valve stenosis and a thoracic aortic aneurysm. |
Yale Center for Mendelian Genomics, |
RCV001849412 | SCV002106968 | pathogenic | KA-like vemurafenib-induced squamous lesions | 2016-06-07 | no assertion criteria provided | literature only |