ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)

dbSNP: rs1226171550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000681544 SCV000045075 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2011-02-11 no assertion criteria provided literature only
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV000681544 SCV000807736 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291341 SCV001479815 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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