ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.1463dup (p.Glu490fs)

dbSNP: rs2128782580
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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 RCV001375169 SCV001571727 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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