ClinVar Miner

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

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Total submissions: 3
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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 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-07-01 criteria provided, single submitter clinical testing
OMIM RCV000005092 SCV000025268 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 1999-02-01 no assertion criteria provided literature only
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV000005092 SCV000994881 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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