ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2947-41C>T

gnomAD frequency: 0.73875  dbSNP: rs7601520
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576463 SCV000677456 benign Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2017-04-14 criteria provided, single submitter clinical testing
GeneDx RCV001619799 SCV001844557 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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