ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.192G>T (p.Ala64=) (rs9964300)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621811 SCV000739805 benign Cardiovascular phenotype 2012-07-29 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221363 SCV000269349 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala64Ala in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 11.6% (473/4072) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs9964300).

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