ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) (rs63750055)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162433 SCV000212780 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034621 SCV000043423 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034621 SCV000511461 likely benign not provided 2017-02-16 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000162433 SCV000686155 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625102 SCV000745190 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-07-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121847 SCV000701855 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000121847 SCV000171033 benign not specified 2013-12-07 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 RCV000121847 SCV000596467 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625102 SCV000743779 benign Hereditary nonpolyposis colorectal cancer type 4 2016-03-15 criteria provided, single submitter clinical testing
ITMI RCV000121847 SCV000086047 not provided not specified 2013-09-19 no assertion provided reference population
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076821 SCV000108308 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% in African population
Invitae RCV000524445 SCV000262182 benign Hereditary nonpolyposis colon cancer 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121847 SCV000806186 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162433 SCV000788108 benign Hereditary cancer-predisposing syndrome 2017-11-30 no assertion criteria provided clinical testing
Vantari Genetics RCV000162433 SCV000267073 likely benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing

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