ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1665A>G (p.Ala555=) (rs146785465)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000126827 SCV000213112 likely benign Hereditary cancer-predisposing syndrome 2014-09-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000126827 SCV000685210 likely benign Hereditary cancer-predisposing syndrome 2015-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000662603 SCV000785240 likely benign Hereditary nonpolyposis colorectal cancer type 5 2017-06-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212650 SCV000706962 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000212650 SCV000170354 benign not specified 2014-02-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000212650 SCV000595847 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000199369 SCV000430962 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586048 SCV000695792 benign not provided 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000524116 SCV000252624 benign Hereditary nonpolyposis colon cancer 2017-12-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212650 SCV000601513 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586048 SCV000888246 benign not provided 2017-05-01 criteria provided, single submitter clinical testing

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