ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)

gnomAD frequency: 0.00015  dbSNP: rs376163622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665442 SCV001872906 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001882754 SCV002276763 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506712 SCV002814550 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-26 criteria provided, single submitter clinical testing

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