ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)

gnomAD frequency: 0.00005  dbSNP: rs756195567
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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, Mass General Brigham Personalized Medicine RCV000825818 SCV000967289 likely benign not specified 2018-12-14 criteria provided, single submitter clinical testing The p.His99Tyr variant in POU4F3 is classified as likely benign because it has b een identified in 0.08% (27/34590) of Latino chromosomes by chromosomes by gnomA D (http://gnomad.broadinstitute.org). ACMG/AMP criteria applied: BS1.
Baylor Genetics RCV001334073 SCV001526815 uncertain significance Autosomal dominant nonsyndromic hearing loss 15 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001557663 SCV001779464 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Invitae RCV001557663 SCV002478208 likely benign not provided 2022-09-03 criteria provided, single submitter clinical testing

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