ClinVar Miner

Submissions for variant NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)

dbSNP: rs878853242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV000225042 SCV000282013 pathogenic X-linked mixed hearing loss with perilymphatic gusher 2016-02-19 no assertion criteria provided research Congenital, profound HL; Mondini

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