ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1594-13_1594-10dup

dbSNP: rs41301015
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625307 SCV000744818 benign Posterior column ataxia-retinitis pigmentosa syndrome 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001515686 SCV001723815 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528685 SCV001740852 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001528685 SCV001922278 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528685 SCV001966066 benign not specified 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.