Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516832 | SCV000613318 | uncertain significance | not specified | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001454192 | SCV001657909 | likely benign | Walker-Warburg congenital muscular dystrophy | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358398 | SCV002653591 | likely benign | Cardiovascular phenotype | 2022-09-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |