ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.*1778A>C

gnomAD frequency: 0.00001  dbSNP: rs886055006
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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 RCV000318598 SCV000417508 uncertain significance Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373280 SCV000417509 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing

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