ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1346del (p.Ala449fs)

dbSNP: rs2134302220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, Department of Biology, Semnan University RCV002271980 SCV002553196 pathogenic Autosomal recessive nonsyndromic hearing loss 24 2021-08-14 criteria provided, single submitter case-control The WES analysis identified a frameshift mutation in the RDX gene on chromosome11 (NM_001260495.2); chr11:110233478delG c.305delC:p.A102fs. The mutation was predicted to be pathogenic based on ACMG guidelines. Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.

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