Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208515 | SCV000263885 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000443483 | SCV000522113 | likely benign | not specified | 2015-12-11 | 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. |
Labcorp Genetics |
RCV000531712 | SCV000641328 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621482 | SCV000736192 | likely benign | Cardiovascular phenotype | 2023-09-18 | 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. |
Color Diagnostics, |
RCV001190669 | SCV001358224 | likely benign | Cardiomyopathy | 2019-03-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997684 | SCV004819108 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000443483 | SCV005882829 | likely benign | not specified | 2025-02-17 | criteria provided, single submitter | clinical testing |