ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3091T>C (p.Tyr1031His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764415 SCV005373808 uncertain significance Severe myoclonic epilepsy in infancy 2024-09-22 criteria provided, single submitter clinical testing

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