ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5958T>A (p.Phe1986Leu)

dbSNP: rs1702056050
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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 RCV001196080 SCV001366535 uncertain significance Seizures, benign familial infantile, 3 2019-02-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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