ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) (rs775062249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV000681526 SCV000807717 pathogenic Deafness, autosomal recessive 42 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291344 SCV001479818 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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