Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641826 | SCV000763476 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180339 | SCV001345248 | likely benign | Cardiomyopathy | 2018-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334114 | SCV002642041 | likely benign | Cardiovascular phenotype | 2022-09-19 | 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. |