ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1511-9A>T (rs12998837)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035357 SCV000604254 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132430 SCV000187524 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000132430 SCV000292090 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000144613 SCV000744274 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035357 SCV000592504 benign not specified 2012-10-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000144613 SCV000734200 benign Lynch syndrome I no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035357 SCV000110271 benign not specified 2013-10-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030240 SCV000430924 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030240 SCV000052907 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030240 SCV000107203 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035357 SCV000059005 benign not specified 2012-12-03 criteria provided, single submitter clinical testing 1511-9A>T in intron 9 of MSH2: This variant is not expected to have clinical sig nificance because it is not located within the conserved +/- 1, 2 invariant regi on. It has been identified in 12.2% (1053/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/; rs12998837). 1511-9A>T in intron 9 of MSH2 (rs12998837; alle le frequency= 12.2%, 1053/8600) **
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035357 SCV000257143 benign not specified no assertion criteria provided research
Mendelics RCV000030240 SCV000837831 benign Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144613 SCV000189940 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035357 SCV000303157 benign not specified 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.