ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)

gnomAD frequency: 0.00129  dbSNP: rs140107312
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248511 SCV000314411 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000864460 SCV001005264 benign Jeune thoracic dystrophy; Nephronophthisis 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001551087 SCV001771516 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494763 SCV002795037 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-09-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000248511 SCV003839184 likely benign not specified 2022-08-26 no assertion criteria provided clinical testing

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