ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) (rs779184118)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334845 SCV001527813 likely pathogenic Severe myoclonic epilepsy in infancy 2018-10-19 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 28084635]

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