ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2081T>A (p.Leu694Ter)

dbSNP: rs2467946472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287594 SCV002577684 pathogenic Developmental and epileptic encephalopathy, 11 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6

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