ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4492del (p.Tyr1498fs)

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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, University of Goettingen RCV004586517 SCV005062153 likely pathogenic Developmental and epileptic encephalopathy, 11 2024-04-22 criteria provided, single submitter clinical testing PVS1, PM2

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