ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) (rs139075013)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192775 SCV000249080 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366885 SCV000461207 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274887 SCV000461208 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714721 SCV000845448 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-08-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733162 SCV000861192 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing

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