ClinVar Miner

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

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
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.
Ambry Genetics RCV000162433 SCV000212780 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001081763 SCV000262182 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000162433 SCV000267073 likely benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
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.
Genetic Services Laboratory,University of Chicago RCV000121847 SCV000596467 benign not specified 2017-11-30 criteria provided, single submitter clinical testing
Color RCV000162433 SCV000686155 benign Hereditary cancer-predisposing syndrome 2014-12-09 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
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
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
PreventionGenetics,PreventionGenetics RCV000121847 SCV000806186 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121847 SCV001158695 benign not specified 2019-03-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625102 SCV001326300 likely benign Hereditary nonpolyposis colorectal cancer type 4 2018-04-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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.
ITMI RCV000121847 SCV000086047 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000162433 SCV000788108 benign Hereditary cancer-predisposing syndrome 2017-11-30 no assertion criteria provided clinical testing

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