ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu)

dbSNP: rs1555954105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677395 SCV000803692 pathogenic Intellectual disability, X-linked 102 2017-10-06 no assertion criteria provided clinical testing

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