ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1732-19T>A (rs77120160)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078418 SCV000110264 benign not specified 2013-06-06 criteria provided, single submitter clinical testing
Invitae RCV000030216 SCV000261441 benign Lynch syndrome 2016-03-28 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000030216 SCV000296889 benign Lynch syndrome 2015-10-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579850 SCV000684767 benign Hereditary cancer-predisposing syndrome 2014-12-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078418 SCV000805955 benign not specified 2016-12-19 criteria provided, single submitter clinical testing
Mendelics RCV000987182 SCV001136421 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001521972 SCV001731413 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001689577 SCV001915401 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21056691)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030216 SCV000052883 benign Lynch syndrome 2012-08-02 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000078418 SCV000257063 uncertain significance not specified no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000078418 SCV001799213 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078418 SCV001808119 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV001689577 SCV001905883 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078418 SCV001925517 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.