Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718914 | SCV000721149 | likely benign | not provided | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181573 | SCV001346750 | likely benign | Cardiomyopathy | 2019-04-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302941 | SCV004007807 | likely benign | Cardiovascular phenotype | 2023-04-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV003767550 | SCV004609526 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-06-28 | criteria provided, single submitter | clinical testing |