ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3438+14A>T (rs2020911)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035324 SCV000604273 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Color RCV000448622 SCV000537327 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000410944 SCV000487973 benign Hereditary nonpolyposis colorectal cancer type 5 2015-12-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000410944 SCV000744299 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035324 SCV000592640 benign not specified criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000410944 SCV000734219 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035324 SCV000110157 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000035324 SCV000170361 benign not specified 2014-11-19 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.
Illumina Clinical Services Laboratory,Illumina RCV000074853 SCV000430976 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074853 SCV000108065 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035324 SCV000058972 benign not specified 2011-07-22 criteria provided, single submitter clinical testing This variant is classified as benign based on its high frequency in the general population (rs2020911, MAF >3%).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035324 SCV000257252 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000035324 SCV000302878 benign not specified criteria provided, single submitter clinical testing

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