ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760249 SCV000890083 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2017-11-02 criteria provided, single submitter clinical testing

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