ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1000dup (p.Leu334fs)

dbSNP: rs1576047519
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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 RCV001004797 SCV001164285 pathogenic Waardenburg syndrome type 2A 2018-05-07 criteria provided, single submitter research Dominant, congenital, severe HL and albinism

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