ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser)

dbSNP: rs1555143920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820855 SCV005442288 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-12-19 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000515860 SCV000611951 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515860 SCV001479379 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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