ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.708= (p.Glu236=)

dbSNP: rs5921978
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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, Mass General Brigham Personalized Medicine RCV000036259 SCV000059911 benign not specified 2012-12-06 criteria provided, single submitter clinical testing Data from the 1000genomes shows that an A has been seen in 7.6% (126) of chromos omes.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001578 SCV001158976 benign X-linked mixed hearing loss with perilymphatic gusher 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV002054583 SCV002487281 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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