Submissions for variant NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)

gnomAD frequency: 0.86482  dbSNP: rs2228006

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121840	SCV000203315	benign	not specified	2018-02-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000121840	SCV000540064	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Frequency
IntelligeneCG	RCV000515611	SCV000611717	benign	Lynch syndrome 4	2017-08-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000121840	SCV000806183	benign	not specified	2016-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV000860105	SCV001000028	benign	Hereditary nonpolyposis colorectal neoplasms	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000515611	SCV001137291	benign	Lynch syndrome 4	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789176	SCV002031507	benign	Mismatch repair cancer syndrome 4	2021-10-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000515611	SCV004016572	benign	Lynch syndrome 4	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997355	SCV004844170	benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
ITMI	RCV000121840	SCV000086038	not provided	not specified	2013-09-19	no assertion provided	reference population
Mayo Clinic Laboratories, Mayo Clinic	RCV000121840	SCV000691969	benign	not specified		no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000121840	SCV001551099	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000121840	SCV001740741	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000121840	SCV001905868	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000121840	SCV001922693	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121840	SCV001931153	benign	not specified		no assertion criteria provided	clinical testing