ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro)

dbSNP: rs1584344549
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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 RCV001004650 SCV000994907 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 criteria provided, single submitter clinical testing in vitro experiment

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