Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607447 | SCV000722736 | likely benign | not specified | 2017-09-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000629115 | SCV000750029 | likely benign | Hypertrophic cardiomyopathy | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805210 | SCV002053305 | likely benign | Cardiomyopathy | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160104 | SCV003855339 | likely benign | Cardiovascular phenotype | 2023-01-13 | 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. |