ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003983783 SCV004800907 likely pathogenic Developmental and epileptic encephalopathy 103 2024-03-13 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Likely pathogenic (II):PP3;PP2;PM2;PS2

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