ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1283A>T (p.Tyr428Phe)

dbSNP: rs796053182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002071028 SCV002320839 likely pathogenic Developmental and epileptic encephalopathy, 11 2022-01-01 criteria provided, single submitter clinical testing

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