ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4762+20T>C

gnomAD frequency: 0.00006  dbSNP: rs750684131
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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 RCV002175107 SCV002350029 likely benign Jeune thoracic dystrophy 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494065 SCV002795158 likely benign Asphyxiating thoracic dystrophy 3 2022-01-03 criteria provided, single submitter clinical testing

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