ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) (rs1042821)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034489 SCV000604270 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132091 SCV000187155 benign Hereditary cancer-predisposing syndrome 2014-10-27 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034489 SCV000043349 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000132091 SCV000292086 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000609254 SCV000744284 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035318 SCV000592563 benign not specified 2012-04-22 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609254 SCV000734206 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035318 SCV000110149 benign not specified 2016-02-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030258 SCV000430945 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030258 SCV000052925 benign Lynch syndrome 2011-12-02 no assertion criteria provided clinical testing
IntelligeneCG RCV000144626 SCV000611715 benign Lynch syndrome I 2017-08-18 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030258 SCV000107840 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000545358 SCV000624619 benign Hereditary nonpolyposis colon cancer 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035318 SCV000058966 benign not specified 2008-10-29 criteria provided, single submitter clinical testing Gly39Glu in exon 1 of MSH6: This variant is not expected to have clinical signif icance because it has been identified in 17% (1336/7748) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/rs1042821). Gly39Glu in exon 1 of MSH6 (rs1042821; a llele frequency = 17%, 1336/7748) **
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035318 SCV000257208 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144626 SCV000189953 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035318 SCV000302867 benign not specified criteria provided, single submitter clinical testing

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