ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser)

dbSNP: rs1470809474
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Total submissions: 1
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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 RCV001375086 SCV001571903 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting

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