ClinVar Miner

Submissions for variant NM_006545.5(NPRL2):c.491dup (p.Asp165fs)

dbSNP: rs1703652698
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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 RCV001198078 SCV001368863 likely pathogenic Epilepsy, familial focal, with variable foci 2 2020-01-23 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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