ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.132C>T (p.Ala44=) (rs138526426)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407910 SCV000438494 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299680 SCV000438495 uncertain significance MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825781 SCV000967248 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala44Ala in Exon 02 of MYH9: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 2/7020 European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs138526426).

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