ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)

dbSNP: rs2154596304
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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 RCV001375466 SCV001572139 likely pathogenic Pendred syndrome 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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