ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup

dbSNP: rs1553563950
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276897 SCV000417378 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324932 SCV000417379 uncertain significance Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing

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