ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr)

gnomAD frequency: 0.08821  dbSNP: rs28730771
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000037476 SCV000051568 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037476 SCV000061134 benign not specified 2011-09-30 criteria provided, single submitter clinical testing Benign based on high population frequency (rs28730771)
PreventionGenetics, part of Exact Sciences RCV000037476 SCV000308971 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252089 SCV000317726 benign Cardiovascular phenotype 2015-07-15 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770442 SCV000901885 benign Cardiomyopathy 2015-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001642560 SCV001158903 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001517097 SCV001725511 benign Hypertrophic cardiomyopathy 14 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001642560 SCV001860575 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037476 SCV001922830 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037476 SCV001955798 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037476 SCV001965104 benign not specified no assertion criteria provided clinical testing

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