ClinVar Miner

Submissions for variant NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)

dbSNP: rs267606855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000218 SCV000020361 pathogenic Autosomal recessive nonsyndromic hearing loss 25 2010-02-12 no assertion criteria provided literature only
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV000000218 SCV000807738 pathogenic Autosomal recessive nonsyndromic hearing loss 25 2018-07-05 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291336 SCV001479810 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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