ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs)

dbSNP: rs756145453
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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 RCV001375213 SCV001571915 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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