ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2559T>C (p.Cys853=) (rs148327780)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492628 SCV000580861 likely benign Hereditary cancer-predisposing syndrome 2016-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000632970 SCV000754179 likely benign Retinoblastoma 2017-11-20 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.