ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.1209A>C (p.Glu403Asp)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002512490 SCV002822906 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant criteria provided, single submitter clinical testing

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