ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.255A>G (p.Ser85=) (rs146433240)

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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 RCV000147590 SCV000195039 uncertain significance Cornelia de Lange syndrome 3 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178906 SCV000231082 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178906 SCV000311071 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327282 SCV000360295 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000178906 SCV000728808 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000715900 SCV000846732 likely benign History of neurodevelopmental disorder 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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