ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)

dbSNP: rs387907016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023782 SCV000045073 pathogenic Autosomal recessive nonsyndromic hearing loss 42 2011-02-11 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291340 SCV001479814 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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