ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.318T>C (p.Ala106=)

gnomAD frequency: 0.00002  dbSNP: rs747777604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462091 SCV001666002 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501303 SCV002795616 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-12-30 criteria provided, single submitter clinical testing

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