ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) (rs1554360358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668348 SCV000792930 likely pathogenic Pendred syndrome 2017-07-24 criteria provided, single submitter clinical testing
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000515726 SCV000611815 pathogenic Enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing

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