ClinVar Miner

Submissions for variant NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)

dbSNP: rs1565941025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000762794 SCV004804923 uncertain significance Warsaw breakage syndrome 2024-03-17 criteria provided, single submitter research
OMIM RCV000762794 SCV000893141 pathogenic Warsaw breakage syndrome 2019-03-27 no assertion criteria provided literature only
GeneReviews RCV000762794 SCV000929993 not provided Warsaw breakage syndrome no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000762794 SCV001133002 uncertain significance Warsaw breakage syndrome 2019-09-15 no assertion criteria provided clinical testing

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