ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.468A>G (p.Gly156=)

gnomAD frequency: 0.00020  dbSNP: rs139457042
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828094 SCV000969773 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088586 SCV001002573 likely benign Jeune thoracic dystrophy; Nephronophthisis 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501161 SCV002805091 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000828094 SCV004147161 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing TTC21B: BP4

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