Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712662 | SCV000724774 | likely benign | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001443077 | SCV001646039 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525234 | SCV001735283 | likely benign | Cardiomyopathy | 2020-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456375 | SCV002615299 | likely benign | Cardiovascular phenotype | 2022-09-17 | 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. |