Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001311763 | SCV000722012 | likely benign | not provided | 2019-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619868 | SCV000740151 | likely benign | Cardiovascular phenotype | 2017-05-10 | 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. |
Color Diagnostics, |
RCV001181385 | SCV001346522 | likely benign | Cardiomyopathy | 2019-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001498339 | SCV001703089 | likely benign | Hypertrophic cardiomyopathy | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491260 | SCV002801704 | likely benign | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-11-11 | criteria provided, single submitter | clinical testing |