Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154771 | SCV000204451 | likely benign | not specified | 2016-11-04 | criteria provided, single submitter | clinical testing | p.Leu1540Leu in exon 33 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 6/66630 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs368734580). |
Gene |
RCV000154771 | SCV000513809 | benign | not specified | 2016-08-15 | 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 | RCV000463768 | SCV000557974 | likely benign | Hypertrophic cardiomyopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777805 | SCV000913800 | likely benign | Cardiomyopathy | 2018-06-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000777805 | SCV002042685 | likely benign | Cardiomyopathy | 2020-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336322 | SCV002635504 | likely benign | Cardiovascular phenotype | 2018-07-03 | 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. |
Diagnostic Laboratory, |
RCV001528561 | SCV001740472 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154771 | SCV001921478 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528561 | SCV001967859 | likely benign | not provided | no assertion criteria provided | clinical testing |