ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.23+10G>C (rs192027828)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119180 SCV000153913 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000212835 SCV000171045 benign not specified 2013-12-17 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.
Ambry Genetics RCV000130558 SCV000185428 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000409370 SCV000489257 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-09-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212835 SCV000596475 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Color RCV000130558 SCV000686179 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000409370 SCV000743787 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212835 SCV000806203 benign not specified 2017-02-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000212835 SCV001158630 benign not specified 2019-01-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409370 SCV001322571 benign Hereditary nonpolyposis colorectal cancer type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000409370 SCV000734571 likely benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000409370 SCV000745851 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-07-11 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.