ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) (rs121908364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center RCV000005092 SCV000611811 pathogenic Enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
OMIM RCV000005092 SCV000025268 pathogenic Enlarged vestibular aqueduct 1999-02-01 no assertion criteria provided literature only

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