ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr)

dbSNP: rs1581138965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796338 SCV005418138 uncertain significance Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PS4_Supporting+PS3_Supporting+PP4
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center RCV000991283 SCV001142662 association Hearing loss 2019-09-10 no assertion criteria provided clinical testing de novo variant, in vitro experiment
OMIM RCV001264770 SCV001443073 pathogenic Hearing loss, autosomal dominant 78 2020-11-09 no assertion criteria provided literature only

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