ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1875C>T (p.Tyr625=) (rs146591697)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621342 SCV000735980 likely benign Cardiovascular phenotype 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000472177 SCV000557878 likely benign Familial hypertrophic cardiomyopathy 14 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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) **

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