ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV003445427 SCV004174151 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2023-11-16 criteria provided, single submitter clinical testing

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