ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4822+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270369 SCV001450649 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2020-02-07 no assertion criteria provided clinical testing

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