ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.2038-5T>C (rs8137674)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037550 SCV000061208 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 2038-5T>C in Intron 16 of MYH9: This variant is not expected to have clinical si gnificance because it has been identified in 2.0% (74/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs8137674).
PreventionGenetics,PreventionGenetics RCV000037550 SCV000309031 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314431 SCV000438438 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366795 SCV000438439 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000839998 SCV000981911 benign not provided 2018-05-04 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.
Invitae RCV000839998 SCV001026915 benign not provided 2019-01-08 criteria provided, single submitter clinical testing

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