ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.1210G>A (p.Glu404Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004545913 SCV005040892 likely pathogenic Developmental and epileptic encephalopathy 103 2023-12-01 criteria provided, single submitter clinical testing ACMG Criteria: PP3_STR,PM1_SUP,PM2_SUP,PP2

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