Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237772 | SCV000295117 | likely benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV001186223 | SCV001352590 | likely benign | Familial hypercholesterolemia | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374403 | SCV002692565 | likely benign | Cardiovascular phenotype | 2022-10-07 | 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. |
Invitae | RCV001186223 | SCV004373263 | likely benign | Familial hypercholesterolemia | 2024-01-07 | criteria provided, single submitter | clinical testing |