ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10802T>G (p.Leu3601Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049965 SCV005680479 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-04-30 criteria provided, single submitter clinical testing

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