ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) (rs200455203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169245 SCV000220524 likely pathogenic Pendred syndrome 2014-07-17 criteria provided, single submitter literature only
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000515737 SCV000611821 pathogenic Enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000515737 SCV000902378 likely pathogenic Enlarged vestibular aqueduct 2019-02-26 no assertion criteria provided case-control

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