ClinVar Miner

Submissions for variant NM_001040142.1(SCN2A):c.*2490G>A

gnomAD frequency: 0.00146  dbSNP: rs189308010
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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 RCV000348587 SCV000483883 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393280 SCV000483884 likely benign Seizures, benign familial infantile, 3 2016-06-14 criteria provided, single submitter clinical testing

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