ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)

dbSNP: rs926775037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV002051729 SCV001949926 likely pathogenic X-linked mixed hearing loss with perilymphatic gusher no assertion criteria provided case-control

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