ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) (rs63750668)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034620 SCV000884396 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132121 SCV000187189 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034620 SCV000043424 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000132121 SCV000537373 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000409245 SCV000488713 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-06-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079105 SCV000592939 benign not specified 2015-01-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000409245 SCV000734563 likely benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000076820 SCV000296932 benign Lynch syndrome 2015-10-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079105 SCV000110974 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000079105 SCV000171032 benign not specified 2013-10-18 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000409245 SCV000743780 likely benign Hereditary nonpolyposis colorectal cancer type 4 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000409245 SCV000745839 benign Hereditary nonpolyposis colorectal cancer type 4 2015-05-04 no assertion criteria provided clinical testing
ITMI RCV000079105 SCV000086050 not provided not specified 2013-09-19 no assertion provided reference population
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076820 SCV000108307 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000524443 SCV000153923 benign Hereditary nonpolyposis colon cancer 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079105 SCV000540066 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: No convincing evidence in HGMD, ExAC: 0.8% (541/66472) European chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079105 SCV000691967 likely benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144651 SCV000189978 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000079105 SCV000806185 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000132121 SCV000788107 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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