ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5588A>G (p.Lys1863Arg)

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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, Cologne University RCV003445426 SCV004174150 uncertain significance Seizures, benign familial infantile, 3 2023-11-09 criteria provided, single submitter clinical testing

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