ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.186C>A (p.Arg62=) (rs1042820)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030261 SCV000107898 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 RCV000030261 SCV000052928 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035319 SCV000058967 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 (rs1042820, MAF >1%).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035319 SCV000203034 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162361 SCV000212666 benign Hereditary cancer-predisposing syndrome 2014-10-22 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.
Color Health, Inc RCV000162361 SCV000292087 benign Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035319 SCV000302869 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094680 SCV000430946 benign Hereditary nonpolyposis colorectal cancer type 5 2018-01-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282860 SCV000604267 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
Invitae RCV000755570 SCV000999956 benign Hereditary nonpolyposis colorectal neoplasms 2020-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000035319 SCV000257216 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035319 SCV001552640 benign not specified no assertion criteria provided clinical testing

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