Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694046 | SCV000822472 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525890 | SCV001736094 | likely benign | Cardiomyopathy | 2020-11-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811446 | SCV002049932 | likely benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360760 | SCV002662903 | likely benign | Cardiovascular phenotype | 2021-11-08 | 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. |