Submissions for variant NM_000535.7(PMS2):c.705+17A>G

gnomAD frequency: 0.33782  dbSNP: rs62456182

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000030371	SCV000108377	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030371	SCV000053038	benign	Lynch syndrome	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000079110	SCV000110979	benign	not specified	2013-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000130741	SCV000185632	benign	Hereditary cancer-predisposing syndrome	2014-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV000079110	SCV000304737	benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000130741	SCV000537328	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001707511	SCV000604898	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000611694	SCV000745198	benign	Lynch syndrome 4	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV001516745	SCV001725076	benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001707511	SCV001934905	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788998	SCV002031511	benign	Mismatch repair cancer syndrome 4	2021-10-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798023	SCV002042814	benign	Breast and/or ovarian cancer	2021-04-21	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000611694	SCV004016576	benign	Lynch syndrome 4	2023-07-07	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000079110	SCV000691977	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611694	SCV000734567	benign	Lynch syndrome 4		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000079110	SCV001906214	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079110	SCV001918444	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079110	SCV001957240	benign	not specified		no assertion criteria provided	clinical testing