ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) (rs794726770)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180886 SCV000221855 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000180886 SCV001429427 pathogenic Severe myoclonic epilepsy in infancy 2018-12-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255366 SCV001431696 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.3706G>C, p.(Ala1236Pro) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was DNV.The variant likely explains the NDD in this individual.

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