ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) (rs1802683)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030370 SCV000108358 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079109 SCV000110978 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130363 SCV000185215 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
Invitae RCV001079827 SCV000252720 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079109 SCV000304733 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625382 SCV000469714 benign Hereditary nonpolyposis colorectal cancer type 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079109 SCV000592955 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079109 SCV000604890 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625382 SCV000745183 benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000625382 SCV000785321 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Mendelics RCV000625382 SCV001137275 benign Hereditary nonpolyposis colorectal cancer type 4 2019-05-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034628 SCV000043413 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030370 SCV000053037 benign Lynch syndrome 2013-11-20 no assertion criteria provided clinical testing
Pathway Genomics RCV000144646 SCV000189973 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079109 SCV000691955 benign not specified no assertion criteria provided clinical testing

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