Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158498 | SCV000208433 | benign | not specified | 2014-05-29 | 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 |
RCV001084598 | SCV000623749 | likely benign | Hypertrophic cardiomyopathy | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001184757 | SCV001350817 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345537 | SCV002653196 | likely benign | Cardiovascular phenotype | 2018-08-07 | 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. |
Fulgent Genetics, |
RCV002492623 | SCV002803377 | likely benign | Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy | 2021-10-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001184757 | SCV004819804 | likely benign | Cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |