ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.579-5729_702+1720del

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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 RCV002286518 SCV002576498 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C criteria provided, single submitter clinical testing

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