ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT

dbSNP: rs780674346
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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 RCV000287246 SCV000417370 uncertain significance Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335331 SCV000417371 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing

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