ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466343 SCV002761298 pathogenic Developmental and epileptic encephalopathy, 7 2022-02-03 criteria provided, single submitter clinical testing

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