ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)

gnomAD frequency: 0.00022  dbSNP: rs533077805
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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 RCV001902665 SCV002153569 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490121 SCV002786392 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734317 SCV005341878 likely benign TTC21B-related disorder 2024-08-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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