ClinVar Miner

Submissions for variant NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) (rs61754061)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174207 SCV000225469 benign not specified 2015-01-26 criteria provided, single submitter clinical testing
Invitae RCV000988130 SCV000288201 benign Baller-Gerold syndrome 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174207 SCV000310031 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000842475 SCV000984497 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Mendelics RCV000988130 SCV001137728 likely benign Baller-Gerold syndrome 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000842475 SCV001798118 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000842475 SCV001809690 likely benign not provided 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.