ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.441G>A (p.Leu147=)

gnomAD frequency: 0.00013  dbSNP: rs147696806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471471 SCV001675576 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501334 SCV002804955 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711347 SCV005256452 likely benign not provided criteria provided, single submitter not provided

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