ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.5877C>T (p.Ala1959=) (rs144179406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275008 SCV000438294 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332477 SCV000438295 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000607530 SCV000711114 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing p.Ala1959Ala in Exon 41 of MYH9: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.2% (59/24024) o f African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad. broadinstitute.org; dbSNP rs144179406).
Invitae RCV000880945 SCV001024076 benign not provided 2017-09-15 criteria provided, single submitter clinical testing

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