Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441523 | SCV000514921 | likely benign | not specified | 2016-01-04 | 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. |
Color Diagnostics, |
RCV001184558 | SCV001350567 | likely benign | Cardiomyopathy | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001445635 | SCV001648669 | likely benign | Hypertrophic cardiomyopathy | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004022300 | SCV005034645 | likely benign | Cardiovascular phenotype | 2023-10-20 | 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. |