ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1621= (p.Lys541=) (rs2228006)

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
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030365 SCV000108304 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030365 SCV000053032 benign Lynch syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
GeneDx RCV000212862 SCV000171031 benign not specified 2013-09-10 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.
Invitae RCV000524442 SCV000262462 benign Hereditary nonpolyposis colon cancer 2018-01-16 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212862 SCV000592937 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034619 SCV000604900 benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034619 SCV000043425 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.

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.