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
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 ( rojects/SNP; dbSNP rs202145133).
Invitae RCV000228018 SCV000287981 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621364 SCV000739833 benign Cardiovascular phenotype 2013-10-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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