ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup

dbSNP: rs67417831
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373047 SCV000417340 uncertain significance Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259692 SCV000417341 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259692 SCV000417348 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373047 SCV000417349 uncertain significance Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001709603 SCV001938120 benign not provided 2020-02-21 criteria provided, single submitter clinical testing

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