ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2568+17G>T

gnomAD frequency: 0.00007  dbSNP: rs370340216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134191 SCV002460377 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500275 SCV002804963 likely benign Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-25 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992617 SCV004810048 likely benign Nephronophthisis 12 2024-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711872 SCV005256439 likely benign not provided criteria provided, single submitter not provided

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