ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.3838-12C>T (rs113698937)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037557 SCV000061215 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 3838-12C>T in Intron 28 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 3.9% (145/3736) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs113698937).
PreventionGenetics,PreventionGenetics RCV000037557 SCV000309054 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330231 SCV000438378 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366178 SCV000438379 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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