ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.23C>T (p.Thr8Met) (rs17217716)

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
Ambry Genetics RCV000130682 SCV000185569 benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000144624 SCV000781766 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434381 SCV000511017 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Color RCV000130682 SCV000685038 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121556 SCV000592449 likely benign not specified 2012-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000121556 SCV000170341 benign not specified 2014-01-31 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.
ITMI RCV000121556 SCV000085750 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000076466 SCV000430908 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076466 SCV000107495 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524384 SCV000166272 benign Hereditary nonpolyposis colon cancer 2018-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121556 SCV000691894 likely benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144624 SCV000189951 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000121556 SCV000806029 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130682 SCV000788032 likely benign Hereditary cancer-predisposing syndrome 2018-03-02 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.