ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.276A>G (p.Pro92=) (rs1800932)

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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 RCV000755571 SCV000604271 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162362 SCV000212667 benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing
Color RCV000162362 SCV000537341 benign Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616289 SCV000744285 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 RCV000616289 SCV000734207 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035321 SCV000110152 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030265 SCV000430948 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030265 SCV000052932 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030265 SCV000107992 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035321 SCV000058969 benign not specified 2011-07-22 criteria provided, single submitter clinical testing This variant is classified as benign because it does not result in an amino acid change and is common in the general population (rs1800932, MAF >1%).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035321 SCV000257228 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000035321 SCV000302873 benign not specified criteria provided, single submitter clinical testing

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