ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)

dbSNP: rs1553463140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199184 SCV001370193 likely pathogenic Seizures, benign familial infantile, 3 2019-03-12 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM6,PP2,PP3.

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