ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1875C>T (p.Asp625=)

gnomAD frequency: 0.00006  dbSNP: rs201527373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112718 SCV002392991 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486879 SCV002799350 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-29 criteria provided, single submitter clinical testing

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