ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) (rs34625968)

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 RCV000132026 SCV000187085 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000132026 SCV000537444 likely benign Hereditary cancer-predisposing syndrome 2015-02-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212691 SCV000592658 likely benign not specified 2014-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000212691 SCV000211365 likely benign not specified 2018-01-22 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074947 SCV000108162 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% in African population
Invitae RCV000524193 SCV000153885 benign Hereditary nonpolyposis colon cancer 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000212691 SCV000691942 uncertain significance not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000212691 SCV000805899 benign not specified 2017-08-11 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.