ClinVar Miner

Submissions for variant NM_001201397.1(EDNRB):c.18T>A (p.Cys6Ter)

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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 RCV001375168 SCV001571726 likely pathogenic Waardenburg syndrome 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate, PP4_Supporting

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