ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.2647-3dup

dbSNP: rs397726340
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676022 SCV001893419 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001816012 SCV002062130 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528476 SCV001740285 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001528476 SCV001918245 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528476 SCV001931953 benign not specified no assertion criteria provided clinical testing

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