ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) (rs2228007)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076814 SCV000108300 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000034617 SCV000153912 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000121839 SCV000171027 benign not specified 2013-09-03 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 RCV000130845 SCV000185743 benign Hereditary cancer-predisposing syndrome 2014-10-14 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121839 SCV000225235 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
Vantari Genetics RCV000130845 SCV000267075 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 criteria provided, single submitter clinical testing
Color RCV000130845 SCV000292101 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121839 SCV000304721 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076814 SCV000469730 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121839 SCV000592936 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625104 SCV000743782 benign Hereditary nonpolyposis colorectal cancer type 4 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625104 SCV000745191 benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000625104 SCV000785347 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034617 SCV000043427 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121839 SCV000086037 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121839 SCV000691971 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625104 SCV000745842 benign Hereditary nonpolyposis colorectal cancer type 4 2015-11-22 no assertion criteria provided clinical testing
True Health Diagnostics RCV000130845 SCV000788103 benign Hereditary cancer-predisposing syndrome 2018-02-05 no assertion criteria provided clinical testing

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