ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2110G>A (p.Glu704Lys) (rs149528866)

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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 RCV000619694 SCV000739832 benign Cardiovascular phenotype 2013-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000231428 SCV000287991 benign Hypertrophic cardiomyopathy 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215719 SCV000269350 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Glu704Lys in exon 15 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 3.2% (6/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs149528866).

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