Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001517909 | SCV001726509 | benign | Capillary malformation-arteriovenous malformation syndrome | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002449348 | SCV002682053 | likely benign | Cardiovascular phenotype | 2020-01-13 | 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. |