ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.895+17G>A

gnomAD frequency: 0.02470  dbSNP: rs45580436
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000168846 SCV000303259 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636707 SCV001848485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054006 SCV002474461 benign Hypertrophic cardiomyopathy 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372059 SCV002683973 benign Cardiovascular phenotype 2014-12-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001636707 SCV005296246 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000168846 SCV001744400 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000168846 SCV001923923 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168846 SCV001959949 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000168846 SCV001974981 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001636707 SCV002035970 likely benign not provided no assertion criteria provided clinical testing
Cohesion Phenomics RCV002054006 SCV003803037 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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