Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231892 | SCV000289897 | benign | Arrhythmogenic right ventricular dysplasia 13 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723820 | SCV002004920 | likely benign | not provided | 2020-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356300 | SCV002622601 | likely benign | Inborn genetic diseases | 2022-02-17 | 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. |
Clinical Genetics, |
RCV001699084 | SCV001922432 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001699084 | SCV001926649 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723820 | SCV001957621 | likely benign | not provided | no assertion criteria provided | clinical testing |