ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)

dbSNP: rs2105429648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788511 SCV001712216 pathogenic Severe myoclonic epilepsy in infancy 2021-05-13 no assertion criteria provided clinical testing

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