ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2253T>C (p.Phe751=) (rs1805325)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030367 SCV000108339 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030367 SCV000053034 benign Lynch syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
GeneDx RCV000174490 SCV000171038 benign not specified 2013-12-02 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.
Ambry Genetics RCV000162407 SCV000212741 benign Hereditary cancer-predisposing syndrome 2014-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174490 SCV000225799 benign not specified 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000755369 SCV000252716 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409560 SCV000488722 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 RCV000174490 SCV000592949 benign not specified 2015-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000174490 SCV000604893 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174490 SCV000806202 benign not specified 2016-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409560 SCV001322358 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Pathway Genomics RCV000144648 SCV000189975 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000174490 SCV000691960 benign not specified no assertion criteria provided clinical testing

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