ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.750C>T (p.Ser250=)

gnomAD frequency: 0.00001  dbSNP: rs200439295
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166458 SCV000217254 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000462971 SCV000562216 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508250 SCV000601858 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166458 SCV000686233 likely benign Hereditary cancer-predisposing syndrome 2016-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000508250 SCV000729329 likely benign not specified 2018-02-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508250 SCV000920045 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Mendelics RCV000987843 SCV001137315 likely benign Lynch syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000508250 SCV004243287 likely benign not specified 2024-02-06 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.