ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.2934G>A (p.Lys978=) (rs147463420)

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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 RCV000147593 SCV000195042 uncertain significance Cornelia de Lange syndrome 3 2013-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259258 SCV000360320 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597254 SCV000705400 likely benign not specified 2017-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000597254 SCV000729015 likely benign not specified 2017-12-29 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 RCV000718716 SCV000849580 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000876329 SCV001018890 benign not provided 2018-10-23 criteria provided, single submitter clinical testing

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