ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp)

gnomAD frequency: 0.00017  dbSNP: rs138996642
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885475 SCV001028918 likely benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375191 SCV001571845 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, PP3_Supporting

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