Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180535 | SCV001345478 | likely benign | Familial hypercholesterolemia | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429809 | SCV002740812 | likely benign | Cardiovascular phenotype | 2020-10-25 | 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. |
Labcorp Genetics |
RCV001180535 | SCV004246265 | likely benign | Familial hypercholesterolemia | 2023-12-25 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004006668 | SCV004820688 | likely benign | Hypercholesterolemia, familial, 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001701298 | SCV001924528 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001701298 | SCV001963256 | likely benign | not provided | no assertion criteria provided | clinical testing |