ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research RCV004577933 SCV005061783 pathogenic Severe myoclonic epilepsy in infancy 2024-04-12 no assertion criteria provided clinical testing

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