ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.999C>T (p.Thr333=)

gnomAD frequency: 0.03596  dbSNP: rs78107039
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037544 SCV000061202 benign not specified 2012-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037544 SCV000308993 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250575 SCV000318172 benign Cardiovascular phenotype 2015-06-26 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.
GeneDx RCV000037544 SCV000513787 benign not specified 2016-09-29 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.
Invitae RCV000462734 SCV000557894 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030312 SCV000052979 benign Cardiomyopathy 2011-11-20 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037544 SCV001918809 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037544 SCV001926728 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037544 SCV001957728 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037544 SCV001967888 benign not specified no assertion criteria provided clinical testing

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