ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)

dbSNP: rs1559870857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV000679819 SCV000804810 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291343 SCV001479817 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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