ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1814+11T>C

gnomAD frequency: 0.00004  dbSNP: rs771369373
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
GeneDx RCV000834973 SCV000976745 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001481225 SCV001685563 likely benign Retinoblastoma 2023-07-03 criteria provided, single submitter clinical testing
Mendelics RCV002249535 SCV002519260 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256557 SCV002530806 likely benign Hereditary cancer-predisposing syndrome 2021-01-11 criteria provided, single submitter curation

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.