ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7713-19_7713-13dup

dbSNP: rs756232172
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307865 SCV000461409 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362655 SCV000461410 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653706 SCV001862145 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700086 SCV001917129 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700086 SCV001930141 benign not specified no assertion criteria provided clinical testing

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