ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.1517-5A>T

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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 RCV003789396 SCV004574953 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014965 SCV005651279 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-01-08 criteria provided, single submitter clinical testing

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