ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1875C>T (p.Tyr625=)

gnomAD frequency: 0.00019  dbSNP: rs146591697
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Total submissions: 8
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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 RCV000037450 SCV000061108 likely benign not specified 2012-10-31 criteria provided, single submitter clinical testing Tyr625Tyr in exon 15 of MYH6: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, and is not located wit hin the splice consensus sequence. It has been identified in 3/8600 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146591697). Tyr625Tyr in exon 15 of MYH6 (rs146591697; allele frequency = 3/8600) **
Labcorp Genetics (formerly Invitae), Labcorp RCV001086253 SCV000557878 likely benign Hypertrophic cardiomyopathy 14 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621342 SCV000735980 likely benign Cardiovascular phenotype 2017-09-01 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.
CeGaT Center for Human Genetics Tuebingen RCV000472177 SCV001149145 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7
GeneDx RCV000472177 SCV001793798 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000472177 SCV005211384 likely benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000472177 SCV001957908 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000472177 SCV001966367 likely benign not provided no assertion criteria provided clinical testing

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