ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro)

dbSNP: rs1851427709
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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 RCV001269401 SCV001448684 likely benign Developmental and epileptic encephalopathy, 5 criteria provided, single submitter clinical testing 20A1923

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