ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.548-5_548-4dup (rs199906378)

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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 RCV000147599 SCV000195048 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147599 SCV000233092 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147599 SCV000311077 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387787 SCV000360299 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547458 SCV000641112 benign Cornelia de Lange syndrome 3 2019-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715195 SCV000846023 likely benign History of neurodevelopmental disorder 2019-04-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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