ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)

dbSNP: rs1554352234
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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 RCV000515700 SCV000611826 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2017-07-01 criteria provided, single submitter clinical testing
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV000515700 SCV000994858 affects Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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