ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003110132 SCV005062154 pathogenic Developmental and epileptic encephalopathy 103 2024-06-28 criteria provided, single submitter clinical testing
Pediatric Neurology, Shengjing Hospital of China Medical University RCV003110132 SCV003761533 likely pathogenic Developmental and epileptic encephalopathy 103 no assertion criteria provided clinical testing

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