ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)

dbSNP: rs1942828530
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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 RCV001195919 SCV001366343 likely pathogenic Developmental and epileptic encephalopathy, 13 2016-01-01 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,PM1,PP3. This variant arose de novo in at least one reported proband.

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