Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre de Génétique Moléculaire et Chromosomique, |
RCV000417263 | SCV000503341 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
Labcorp Genetics |
RCV000862650 | SCV001003180 | likely benign | Familial hypercholesterolemia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372702 | SCV004098400 | likely benign | Cardiovascular phenotype | 2023-07-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |