ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.265-2143G>A (rs1574312497)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
VIB - Center for Molecular Neurology,University of Antwerp RCV000855539 SCV000995824 likely pathogenic Severe myoclonic epilepsy in infancy 2018-09-19 no assertion criteria provided research The de novo variant identified here is found in an SCN1A poison exon in a patient with Dravet syndrome and is absent in publicly available databases such as gnomAD, which is consistent with negative selection in human populations.

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