ClinVar Miner

Submissions for variant NM_001039803.2(CDK20):c.610T>C (p.Phe204Leu) (rs745561217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287619 SCV001474325 uncertain significance none provided 2019-08-02 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000492039 SCV000282214 likely pathogenic Global developmental delay; Intellectual disability 2016-01-10 no assertion criteria provided research

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