ClinVar Miner

Submissions for variant NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224921 SCV003920942 likely pathogenic Developmental and epileptic encephalopathy, 71 2023-04-14 criteria provided, single submitter clinical testing

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