ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln)

dbSNP: rs1466835034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375224 SCV001571974 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PM3_Supporting, PM4_Moderate; PM2_Moderate, PM3_Supporting, PM4_Moderate
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754790 SCV000882672 likely pathogenic Autosomal recessive nonsyndromic hearing loss 15 2018-09-13 no assertion criteria provided clinical testing

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