ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2062A>T (p.Thr688Ser) (rs188677538)

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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 RCV000620573 SCV000739885 likely benign Cardiovascular phenotype 2013-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification
Invitae RCV000228801 SCV000287990 benign Hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222071 SCV000270560 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr688Ser in exon 15 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 2.7% (5/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs188677538).

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