ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.551+2T>C

dbSNP: rs1591158999
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Total submissions: 1
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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 RCV000790510 SCV000929840 pathogenic Autosomal recessive nonsyndromic hearing loss 24 criteria provided, single submitter research

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