ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.2543+7C>G (rs201979143)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145919 SCV000193056 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145919 SCV000227635 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Invitae RCV000711488 SCV000252734 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346472 SCV000410395 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384954 SCV000410396 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711488 SCV000841857 benign not provided 2018-03-26 criteria provided, single submitter clinical testing

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