ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.710= (p.Ala237=) (rs5921979)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036257 SCV000059909 benign not specified 2012-12-06 criteria provided, single submitter clinical testing Data from the 1000genomes has an MAF for G at 10.8% (179 chromosomes).
Mendelics RCV000990891 SCV001141944 benign Deafness, X-linked 2 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000990891 SCV001156953 benign Deafness, X-linked 2 2018-07-12 criteria provided, single submitter clinical testing

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