ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter)

dbSNP: rs1064797177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487897 SCV000574960 likely pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375059 SCV001571773 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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