ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4309-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883285 SCV004697631 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 criteria provided, single submitter clinical testing

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