ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4359+5A>G (rs193283041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213263 SCV000269281 benign not specified 2015-07-02 criteria provided, single submitter clinical testing c.4359+5A>G in intron 30 of MYH6: This variant is not expected to have clinical significance because it has been identified in 1.2% (100/8646) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs193283041).
Invitae RCV000839532 SCV000546140 benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618595 SCV000736577 benign Cardiovascular phenotype 2016-04-25 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 RCV000839532 SCV000981433 likely benign not provided 2018-03-26 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.

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