Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186036 | SCV001352366 | likely benign | Familial hypercholesterolemia | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001186036 | SCV001710313 | likely benign | Familial hypercholesterolemia | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393423 | SCV002700388 | likely benign | Cardiovascular phenotype | 2019-06-29 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323808 | SCV004028783 | likely benign | not specified | 2023-07-18 | criteria provided, single submitter | clinical testing |