ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2802A>G (p.Pro934=) (rs79397275)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465868 SCV000561250 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613577 SCV000711569 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro934Pro in exon 19 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 11.0% (22/200) of H an Chinese chromosomes from a broad population by the 1000 Genomes Project (http ://; dbSNP rs79397275).
Ambry Genetics RCV000621729 SCV000739903 benign Cardiovascular phenotype 2013-03-19 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

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