ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3439-16C>T (rs192614006)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074857 SCV000108069 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078314 SCV000110158 benign not specified 2013-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000078314 SCV000170362 benign not specified 2013-11-04 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 RCV000074857 SCV000261909 benign Lynch syndrome 2016-03-29 criteria provided, single submitter clinical testing
Color Health, Inc RCV000581058 SCV000685404 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606483 SCV000744300 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078314 SCV000805891 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV001518390 SCV001727068 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000078314 SCV000257253 likely benign not specified no assertion criteria provided research
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353517 SCV000592644 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606483 SCV000734220 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078314 SCV001807089 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000078314 SCV001906064 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078314 SCV001921113 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078314 SCV001959748 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.