ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.471A>G (p.Val157=)

gnomAD frequency: 0.00011  dbSNP: rs376917034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218427 SCV000270794 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Val157Val in exon 6 of RDX: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 45/66166 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs148223897).
GeneDx RCV001577473 SCV001804860 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485381 SCV002803553 likely benign Autosomal recessive nonsyndromic hearing loss 24 2021-07-08 criteria provided, single submitter clinical testing
Invitae RCV001577473 SCV003441107 likely benign not provided 2023-11-14 criteria provided, single submitter clinical testing

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