ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291115 SCV002583358 likely pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-12-01 no assertion criteria provided clinical testing

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