ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) (rs1241745103)

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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 RCV001004223 SCV001163097 pathogenic Pendred syndrome criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770867 SCV000902377 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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