ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2829A>G (p.Leu943=)

gnomAD frequency: 0.00041  dbSNP: rs146009256
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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 RCV000867499 SCV001008730 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501268 SCV002809437 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538255 SCV004741504 likely benign TTC21B-related disorder 2022-12-09 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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