ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)

dbSNP: rs1602232972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089707 SCV001245191 likely pathogenic Developmental and epileptic encephalopathy, 2 2020-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001593260 SCV001824211 likely pathogenic not provided 2020-02-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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