ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.540T>C (p.Asp180=) (rs1800935)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755572 SCV000604272 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131276 SCV000186244 benign Hereditary cancer-predisposing syndrome 2014-11-07 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
Color RCV000131276 SCV000537336 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616128 SCV000744287 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616128 SCV000734210 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035326 SCV000110162 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030275 SCV000430953 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030275 SCV000052942 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030275 SCV000108224 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035326 SCV000058974 benign not specified 2008-07-10 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035326 SCV000257302 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000035326 SCV000302881 benign not specified criteria provided, single submitter clinical testing

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