ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) (rs1802683)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030370 SCV000108358 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079109 SCV000110978 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130363 SCV000185215 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
Invitae RCV000034628 SCV000252720 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079109 SCV000304733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030370 SCV000469714 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079109 SCV000592955 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079109 SCV000604890 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625382 SCV000745183 benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000625382 SCV000785321 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034628 SCV000043413 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030370 SCV000053037 benign Lynch syndrome 2013-11-20 no assertion criteria provided clinical testing
Pathway Genomics RCV000144646 SCV000189973 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079109 SCV000691955 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.