ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) (rs147404470)

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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 RCV000147581 SCV000195030 benign not specified 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147581 SCV000311068 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392118 SCV000360311 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715500 SCV000846329 likely benign History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147581 SCV000855165 benign not specified 2018-07-12 criteria provided, single submitter clinical testing

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