ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4879G>C (p.Val1627Leu)

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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 RCV005054510 SCV005687791 likely pathogenic Seizures, benign familial infantile, 3 2024-11-08 criteria provided, single submitter clinical testing

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