ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro)

gnomAD frequency: 0.00001  dbSNP: rs1555061205
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233664 SCV003932214 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing PM1, PM2,
Dan Cohn Lab, University Of California Los Angeles RCV001291281 SCV000611994 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291281 SCV001479728 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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