ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5683C>T (p.Arg1895Cys) (rs200485394)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610726 SCV000711112 benign not specified 2019-03-05 criteria provided, single submitter clinical testing The p.Arg1895Cys variant in MYH14 is classified as benign because it has been identified in 0.2% (33/16692) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). It has also been identified by our laboratory in an unaffected parent of a child with hearing loss. ACMG/AMP criteria applied: BA1.
Invitae RCV000905840 SCV001050440 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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