ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) (rs55907433)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 20
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075440 SCV000106437 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF 1% in African population
Invitae RCV001083015 SCV000166246 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000034543 SCV000170300 benign not provided 2018-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15133479, 18809606, 26332594, 22703879, 24055113, 16995940, 21056691, 21681552, 25637381, 22736432, 22949387, 20981092, 24728327, 12115348, 27153395, 18561205, 18383312, 16341804, 24933000, 17510385, 31784484)
Ambry Genetics RCV000130675 SCV000185561 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121364 SCV000226564 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121364 SCV000595805 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121364 SCV000601374 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000130675 SCV000684785 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659875 SCV000781762 likely benign Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121364 SCV000805960 benign not specified 2017-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034543 SCV000889394 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000659875 SCV001136430 benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000659875 SCV001305814 likely benign Lynch syndrome II 2019-04-23 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034543 SCV001433781 likely benign not provided 2017-10-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034543 SCV000043328 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121364 SCV000085545 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000148615 SCV000190330 likely benign Endometrial carcinoma 2014-06-01 no assertion criteria provided research
Mayo Clinic Laboratories, Mayo Clinic RCV000121364 SCV000257076 uncertain significance not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000034543 SCV000592430 uncertain significance not provided no assertion criteria provided clinical testing
True Health Diagnostics RCV000130675 SCV000788021 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 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.