ClinVar Miner

Submissions for variant NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)

gnomAD frequency: 0.00001  dbSNP: rs28942096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753398 SCV001986365 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 12145746, 16389551, 24949729, 30303587, 26186295)
OMIM RCV000003557 SCV000023715 pathogenic Autosomal recessive nonsyndromic hearing loss 6 2002-09-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291482 SCV001479986 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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