ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)

gnomAD frequency: 0.00012  dbSNP: rs201162086
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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 RCV001957724 SCV002215444 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492026 SCV002779872 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-20 criteria provided, single submitter clinical testing

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