ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.1158C>T (p.Thr386=) (rs138502859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151351 SCV000199330 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Thr386Thr in exon 11 of MYH9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (89/66688) of E uropean chromosomes and in 0.1% (22/16502) of South Asian chromosomes by the Exo me Aggregation Consortium(http://exac.broadinstitute.org/; dbSNP rs138502859).
PreventionGenetics,PreventionGenetics RCV000151351 SCV000309018 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357540 SCV000438462 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265189 SCV000438463 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000151351 SCV000717936 likely benign not specified 2018-01-25 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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