ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.380+45C>T

gnomAD frequency: 0.21231  dbSNP: rs520342
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
PreventionGenetics, part of Exact Sciences RCV000244097 SCV000303587 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001675688 SCV001895137 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316345 SCV004017253 benign Retinoblastoma 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675688 SCV005230273 benign not provided criteria provided, single submitter not provided

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.