ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.*17G>C

gnomAD frequency: 0.00004  dbSNP: rs556089649
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076782 SCV000108270 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Eurofins Ntd Llc (ga) RCV000174852 SCV000226233 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000174852 SCV000304715 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811352 SCV000604889 benign not provided 2023-10-23 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000608685 SCV000745182 likely benign Lynch syndrome 4 2017-05-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000608685 SCV001320885 uncertain significance Lynch syndrome 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798270 SCV002042776 likely benign Breast and/or ovarian cancer 2021-04-21 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000174852 SCV002550675 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326791 SCV002633691 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608685 SCV000734558 benign Lynch syndrome 4 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000174852 SCV001959231 benign not specified no assertion criteria provided clinical testing

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