ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys)

gnomAD frequency: 0.00005  dbSNP: rs144130537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983918 SCV002279466 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV002511122 SCV002820500 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005025603 SCV005652179 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-05-29 criteria provided, single submitter clinical testing

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