ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.59C>T (p.Pro20Leu) (rs587778637)

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
Invitae RCV000477348 SCV000551840 likely benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569325 SCV000674710 likely benign Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification
Mendelics RCV000477348 SCV000838917 uncertain significance Retinoblastoma 2018-07-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121915 SCV000967518 uncertain significance not specified 2020-04-09 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
ITMI RCV000121915 SCV000086120 not provided not specified 2013-09-19 no assertion provided reference population

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.