ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.[1210T>C];[1939T>C]

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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 RCV000225096 SCV000282006 pathogenic Deafness, autosomal recessive 7 2016-02-19 no assertion criteria provided research Congenital, profound HL

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