ClinVar Miner

Submissions for variant NM_147196.2(TMIE):c.250C>T (p.Arg84Trp) (rs28942097)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093068 SCV001249880 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV001353204 SCV001442495 likely pathogenic Sensorineural hearing loss 2020-09-30 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375180 SCV001571786 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Moderate, PM2_Moderate, PM5_Moderate, PP3_Supporting
OMIM RCV000003558 SCV000023716 pathogenic Deafness, autosomal recessive 6 2009-06-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291483 SCV001479987 likely pathogenic Autosomal recessive nonsyndromic deafness no assertion criteria provided research

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