ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.553-13del

dbSNP: rs749999474
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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 RCV002218215 SCV002361111 benign Jeune thoracic dystrophy; Nephronophthisis 2023-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498230 SCV002808160 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-25 criteria provided, single submitter clinical testing

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