ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)

dbSNP: rs121908361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005091 SCV000025267 pathogenic Autosomal recessive nonsyndromic hearing loss 4 1999-02-01 no assertion criteria provided literature only
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV000005091 SCV000994880 affects Autosomal recessive nonsyndromic hearing loss 4 2019-08-20 no assertion criteria provided clinical testing in vitro experiment

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