ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) (rs74902811)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162424 SCV000212769 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 RCV000034618 SCV000043426 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 RCV000034618 SCV000609635 benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Color RCV000162424 SCV000537382 benign Hereditary cancer-predisposing syndrome 2014-11-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121845 SCV000225238 benign not specified 2018-03-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625103 SCV000743781 benign Hereditary nonpolyposis colorectal cancer type 4 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625103 SCV000745841 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-05 no assertion criteria provided clinical testing
ITMI RCV000121845 SCV000086045 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000076815 SCV000469729 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076815 SCV000108301 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524437 SCV000562219 benign Hereditary nonpolyposis colon cancer 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121845 SCV000304722 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162424 SCV000788104 benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing
Vantari Genetics RCV000162424 SCV000267074 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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