Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001448038 | SCV001651119 | likely benign | DK1-congenital disorder of glycosylation | 2022-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002396038 | SCV002696215 | likely benign | Cardiovascular phenotype | 2020-01-03 | 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. |