ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) (rs3211299)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130532 SCV000185401 benign Hereditary cancer-predisposing syndrome 2014-11-10 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034501 SCV000043350 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
CSER_CC_NCGL; University of Washington Medical Center RCV000148642 SCV000190357 likely benign Colorectal cancer, non-polyposis 2014-06-01 no assertion criteria provided research
Center for Human Genetics, Inc RCV000606030 SCV000781780 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000130532 SCV000685489 likely benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121570 SCV000592567 likely benign not specified 2015-09-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606030 SCV000734208 likely benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121570 SCV000700619 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000121570 SCV000170368 benign not specified 2014-01-09 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 RCV000121570 SCV000595849 likely benign not specified 2016-12-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000606030 SCV000745646 benign Hereditary nonpolyposis colorectal cancer type 5 2016-12-09 no assertion criteria provided clinical testing
ITMI RCV000121570 SCV000085766 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000034501 SCV000695914 benign not provided 2016-05-03 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074988 SCV000108204 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524206 SCV000252631 benign Hereditary nonpolyposis colon cancer 2018-01-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121570 SCV000539698 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 18 papers in HGMD - most say that it is benign. Classified in ClinVar as Benign/Likely Benign by 6 submitters (InSiGHT (3 stars), GeneDx, Ambry, Invitae, Prevention Genetics, CSER_CC_NCGL), as VUS by Biesecker lab, and as Pathogenic by Mayo Clinic. MaxMAF = 0.27% - high for disease incidence.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034501 SCV000257299 pathogenic not provided no assertion criteria provided research
Mendelics RCV000074988 SCV000837866 likely benign Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121570 SCV000302879 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000034501 SCV000805904 likely benign not provided 2015-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121570 SCV000601605 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034501 SCV000888289 benign not provided 2016-04-12 criteria provided, single submitter clinical testing

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