ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.553-5A>C

gnomAD frequency: 0.00049  dbSNP: rs544620018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866701 SCV001007833 likely benign Jeune thoracic dystrophy; Nephronophthisis 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001731958 SCV001982325 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001731958 SCV005878602 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735839 SCV005343065 likely benign TTC21B-related disorder 2024-07-29 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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