ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) (rs1584331188)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004222 SCV001163096 pathogenic Pendred syndrome criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham,Tel Aviv University RCV001004806 SCV001164295 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2018-05-07 no assertion criteria provided research Recessive, postlingual, progressive to profound HL; EVA

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