ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val)

dbSNP: rs1584304377
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV001004621 SCV000994865 affects Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 no assertion criteria provided literature only in vitro experiment

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