ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=)

gnomAD frequency: 0.00008  dbSNP: rs781691287
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002170578 SCV002347451 likely benign Jeune thoracic dystrophy 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494057 SCV002797786 likely benign Asphyxiating thoracic dystrophy 3 2021-08-09 criteria provided, single submitter clinical testing

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