ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.539C>T (p.Thr180Ile) (rs61735396)

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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 RCV000214625 SCV000269370 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr180Ile in exon 4 of MYOM1: This variant is not expected to have clinical sign ificance because it has been identified in 1.4% (56/3988) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs61735396).
Invitae RCV000457291 SCV000561229 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621949 SCV000739825 benign Cardiovascular phenotype 2013-11-21 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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