ClinVar Miner

Submissions for variant NM_000083.3:c.[742A>T];[2680C>T]

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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 RCV004515784 SCV005016491 pathogenic Congenital myotonia, autosomal recessive form 2023-11-30 criteria provided, single submitter clinical testing

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