ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)

gnomAD frequency: 0.00006  dbSNP: rs763158250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308837 SCV001498311 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001760370 SCV002000240 uncertain significance not provided 2020-10-29 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
Fulgent Genetics, Fulgent Genetics RCV002486207 SCV002789569 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-13 criteria provided, single submitter clinical testing

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