ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) (rs61759469)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718215 SCV000849077 likely benign History of neurodevelopmental disorder 2018-10-18 criteria provided, single submitter clinical testing Structural Evidence;Subpopulation frequency in support of benign classification
GeneDx RCV000842534 SCV000984557 likely benign not provided 2018-05-01 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.
Invitae RCV001085296 SCV001008037 likely benign Developmental and epileptic encephalopathy 94 2020-10-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000842534 SCV001476340 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.