ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.139A>G (p.Ser47Gly) (rs202145133)

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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 RCV000621364 SCV000739833 benign Cardiovascular phenotype 2013-10-24 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 RCV000228018 SCV000287981 benign Hypertrophic cardiomyopathy 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213229 SCV000269341 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser47Gly in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it has been identified in 4.3% (8/186) of Finnish chromosomes fr om a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/p rojects/SNP; dbSNP rs202145133).

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