ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu)

dbSNP: rs878853232
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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 RCV000225038 SCV000281993 pathogenic Autosomal recessive nonsyndromic hearing loss 86 2016-02-16 no assertion criteria provided research Congenital, progressive, severe-profound HL

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