ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.391-1G>A

gnomAD frequency: 0.00001  dbSNP: rs751906778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000681530 SCV000929853 pathogenic Autosomal recessive nonsyndromic hearing loss 74 criteria provided, single submitter research
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV000681530 SCV000807721 pathogenic Autosomal recessive nonsyndromic hearing loss 74 2018-07-05 no assertion criteria provided research

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