ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) (rs201016285)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155802 SCV000205513 benign not specified 2015-04-02 criteria provided, single submitter clinical testing p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201016285).
Ambry Genetics RCV000244312 SCV000319078 benign Cardiovascular phenotype 2018-09-06 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
GeneDx RCV000155802 SCV000515729 benign not specified 2017-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000756392 SCV000557918 benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155802 SCV000884191 benign not specified 2018-09-20 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852693 SCV000995403 benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing

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