Submissions for variant NM_000535.7(PMS2):c.706-4dup

dbSNP: rs60794673

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179768	SCV000232072	benign	not specified	2015-04-10	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202996	SCV000257704	benign	Lynch syndrome	2015-05-11	criteria provided, single submitter	clinical testing
Counsyl	RCV000409009	SCV000488169	uncertain significance	Lynch syndrome 4	2016-02-19	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000179768	SCV000601856	benign	not specified	2021-04-07	criteria provided, single submitter	clinical testing
Invitae	RCV000531203	SCV000625679	benign	Hereditary nonpolyposis colorectal neoplasms	2017-06-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000582069	SCV000691103	benign	Hereditary cancer-predisposing syndrome	2021-10-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000582069	SCV000691104	likely benign	Hereditary cancer-predisposing syndrome	2017-07-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000409009	SCV000743784	likely benign	Lynch syndrome 4	2016-05-20	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000409009	SCV000745195	benign	Lynch syndrome 4	2017-06-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582069	SCV002662144	benign	Hereditary cancer-predisposing syndrome	2020-07-06	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.
Myriad Genetics, Inc.	RCV000409009	SCV004019859	benign	Lynch syndrome 4	2023-04-04	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health	RCV000202996	SCV004822678	benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000409009	SCV000745846	likely benign	Lynch syndrome 4	2015-05-08	no assertion criteria provided	clinical testing
Ding PR Lab, Sun Yat-sen University Cancer Center	RCV001093662	SCV001250843	uncertain significance	Lynch syndrome 1		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179768	SCV001739646	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000179768	SCV001797548	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579468	SCV001807365	likely benign	not provided		no assertion criteria provided	clinical testing