Submissions for variant NM_000535.7(PMS2):c.1467G>A (p.Glu489=)

gnomAD frequency: 0.00015  dbSNP: rs542522853

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083775	SCV000166375	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162478	SCV000212851	likely benign	Hereditary cancer-predisposing syndrome	2014-07-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health	RCV000162478	SCV000537439	likely benign	Hereditary cancer-predisposing syndrome	2015-06-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679350	SCV000806173	likely benign	not provided	2017-09-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679350	SCV000888393	likely benign	not provided	2022-08-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174591	SCV001337782	benign	not specified	2020-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000679350	SCV001845556	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31992580)
Sema4, Sema4	RCV000162478	SCV002529799	likely benign	Hereditary cancer-predisposing syndrome	2021-04-29	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002498584	SCV002810120	likely benign	Lynch syndrome 4; Mismatch repair cancer syndrome 4	2021-08-12	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001174591	SCV004025116	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492542	SCV004239585	likely benign	Breast and/or ovarian cancer	2023-05-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997416	SCV004844204	likely benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000162478	SCV000886700	likely benign	Hereditary cancer-predisposing syndrome	2018-11-12	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000679350	SCV001742829	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679350	SCV001951074	likely benign	not provided		no assertion criteria provided	clinical testing