ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.276A>G (p.Pro92=) (rs1800932)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030265 SCV000107992 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030265 SCV000052932 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
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%).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035321 SCV000110152 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162362 SCV000212667 benign Hereditary cancer-predisposing syndrome 2014-10-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics,PreventionGenetics RCV000035321 SCV000302873 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000616289 SCV000430948 benign Hereditary nonpolyposis colorectal cancer type 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Health, Inc RCV000162362 SCV000537341 benign Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282861 SCV000604271 benign none provided 2020-08-21 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
Invitae RCV000755571 SCV000999957 benign Hereditary nonpolyposis colorectal neoplasms 2020-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000035321 SCV000257228 benign not specified no assertion criteria provided 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
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035321 SCV001552908 benign not specified no assertion criteria provided clinical testing #N/A

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