ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) (rs371902632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250835 SCV000309462 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250835 SCV000521431 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000475189 SCV000558803 benign Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2019-12-31 criteria provided, single submitter clinical testing

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