ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)

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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 RCV001004735 SCV001164207 likely pathogenic Seizures, benign familial infantile, 3 2018-04-30 criteria provided, single submitter clinical testing

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