ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)

gnomAD frequency: 0.00001  dbSNP: rs397514635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000033158 SCV001526382 likely pathogenic Asphyxiating thoracic dystrophy 3 criteria provided, single submitter clinical testing The c.7985G>A (p.R2662Q) variant in the DYNC2H1 gene has been identified in a compound heterozygous state in multiple individuals with short-rib thoracic dysplasia (PMID: 22499340, 29068549).
OMIM RCV000033158 SCV000056940 pathogenic Asphyxiating thoracic dystrophy 3 2012-04-01 no assertion criteria provided literature only
Dan Cohn Lab, University Of California Los Angeles RCV000033158 SCV000611908 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000033158 SCV001479721 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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