ClinVar Miner

Submissions for variant NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)

gnomAD frequency: 0.32301  dbSNP: rs2307394
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000146999 SCV000309113 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000146999 SCV000539980 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Mendelics RCV000986824 SCV001135961 benign Meier-Gorlin syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001511200 SCV001718403 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511200 SCV001901284 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986824 SCV002029314 benign Meier-Gorlin syndrome 2 2021-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146999 SCV000194336 likely 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.