ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.950A>G (p.His317Arg)

gnomAD frequency: 0.00005  dbSNP: rs756537286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483862 SCV000569819 likely benign not specified 2017-08-16 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 RCV000693841 SCV000822262 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-12-21 criteria provided, single submitter clinical testing

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