Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001428310 | SCV001631007 | likely benign | Hypertrophic cardiomyopathy | 2023-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336949 | SCV002639721 | likely benign | Cardiovascular phenotype | 2020-03-19 | 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. |
Fulgent Genetics, |
RCV002502862 | SCV002801761 | likely benign | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-11-22 | criteria provided, single submitter | clinical testing |