Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001412558 | SCV001614644 | likely benign | Legius syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003120604 | SCV003801279 | likely benign | not specified | 2023-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160649 | SCV003911283 | likely benign | Cardiovascular phenotype | 2022-11-21 | 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. |