ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) (rs557097410)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000333245 SCV000344522 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719887 SCV000850758 likely benign History of neurodevelopmental disorder 2016-09-01 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001085996 SCV001022512 likely benign Smith-Lemli-Opitz syndrome 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000333245 SCV001764241 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085996 SCV001460486 likely benign Smith-Lemli-Opitz syndrome 2020-09-16 no assertion criteria provided 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.