ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11150_11151insT (p.Leu3718fs)

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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 RCV005044247 SCV005680483 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-04-15 criteria provided, single submitter clinical testing

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