ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) (rs1805323)

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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) RCV000076810 SCV000108296 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079104 SCV000110973 benign not specified 2018-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130906 SCV000185815 benign Hereditary cancer-predisposing syndrome 2014-07-31 criteria provided, single submitter clinical testing
Color RCV000130906 SCV000292094 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079104 SCV000304719 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625385 SCV000469732 benign Hereditary nonpolyposis colorectal cancer type 4 2018-01-12 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 RCV000079104 SCV000592935 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079104 SCV000604896 benign not specified 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV001081087 SCV000625528 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079104 SCV000711442 benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Thr485Lys in exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 35% (3077/8632) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs1805323).
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625385 SCV000745192 benign Hereditary nonpolyposis colorectal cancer type 4 2017-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000625385 SCV000785345 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 RCV000034616 SCV000043428 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079104 SCV000086044 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079104 SCV000691973 benign not specified no assertion criteria provided clinical testing

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