ClinVar Miner

Submissions for variant NM_001318510.2(ACSL4):c.806+3A>G (rs183171123)

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 RCV000514022 SCV000232203 uncertain significance not provided 2014-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000192340 SCV000246310 benign not specified 2016-06-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514022 SCV000609677 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717579 SCV000848432 benign History of neurodevelopmental disorder 2016-12-09 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000514022 SCV001012905 benign not provided 2019-12-31 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.