ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) (rs184087864)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079473 SCV000111352 benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079473 SCV000151458 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000079473 SCV000523010 benign not specified 2016-01-15 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.
Athena Diagnostics Inc RCV000712007 SCV000842420 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715058 SCV000845882 likely benign History of neurodevelopmental disorder 2016-03-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification

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