ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) (rs55907433)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130675 SCV000185561 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034543 SCV000043328 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 RCV000148615 SCV000190330 likely benign Endometrial carcinoma 2014-06-01 no assertion criteria provided research
Center for Human Genetics, Inc RCV000659875 SCV000781762 likely benign Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000130675 SCV000684785 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121364 SCV000592430 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121364 SCV000226564 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000121364 SCV000170300 benign not specified 2013-12-20 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 RCV000121364 SCV000595805 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing
ITMI RCV000121364 SCV000085545 not provided not specified 2013-09-19 no assertion provided reference population
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075440 SCV000106437 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF 1% in African population
Invitae RCV000524257 SCV000166246 benign Hereditary nonpolyposis colon cancer 2018-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121364 SCV000257076 uncertain significance not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000121364 SCV000805960 benign not specified 2017-12-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121364 SCV000601374 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034543 SCV000889394 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130675 SCV000788021 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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