Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001443890 | SCV001646877 | likely benign | Capillary malformation-arteriovenous malformation syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810736 | SCV002048744 | benign | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002322470 | SCV002607560 | likely benign | Cardiovascular phenotype | 2022-07-06 | 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. |