ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) (rs141142414)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University RCV000460029 SCV000538187 pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-01-03 no assertion criteria provided clinical testing The proband and his eldest sister were profound hearing loss, and his father, mother and elder sister were normal hearing.
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV000460029 SCV000994862 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only in vitro experiment

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