ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.2246C>A (p.Ala749Glu)

dbSNP: rs1562722163
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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 RCV000767530 SCV000898148 likely pathogenic Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2018-07-10 no assertion criteria provided clinical testing

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