ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) (rs10254120)

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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) RCV000076879 SCV000108372 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Ambry Genetics RCV000130423 SCV000185287 benign Hereditary cancer-predisposing syndrome 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121854 SCV000227138 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
Color RCV000130423 SCV000292093 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121854 SCV000304736 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076879 SCV000469746 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121854 SCV000592920 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034632 SCV000604899 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121854 SCV000711437 benign not specified 2016-09-01 criteria provided, single submitter clinical testing p.Arg20Gln in exon 2 of PMS2: This variant is not expected to have clinical sign ificance because it has been identified in 7.8% (9003/115162) of total chromosom es by the Exome Aggregation Consortium (ExAC), including 410 homozygous individu als (http://exac.broadinstitute.org; dbSNP rs10254120). Furthermore, it was clas sified as benign on Sep. 5, 2013 by the ClinGen-approved InSiGHT expert panel (C linVar SCV000108372.2).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000606319 SCV000743785 likely benign Hereditary nonpolyposis colorectal cancer type 4 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606319 SCV000745199 benign Hereditary nonpolyposis colorectal cancer type 4 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000034632 SCV001000408 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034632 SCV000043439 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121854 SCV000086056 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144652 SCV000189979 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121854 SCV000691981 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000606319 SCV000734569 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing

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