ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=) (rs527970192)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000332510 SCV000417442 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368458 SCV000417443 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing

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