Submissions for variant NM_000535.7(PMS2):c.2006+6G>A (rs111905775)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076839	SCV000108327	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000079106	SCV000110975	benign	not specified	2018-03-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000130905	SCV000185814	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color	RCV000130905	SCV000292095	benign	Hereditary cancer-predisposing syndrome	2014-12-10	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000079106	SCV000304726	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000625384	SCV000469720	benign	Hereditary nonpolyposis colorectal cancer type 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000079106	SCV000592942	likely benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000079106	SCV000604895	benign	not specified	2018-07-13	criteria provided, single submitter	clinical testing
Invitae	RCV000546054	SCV000625577	benign	Hereditary nonpolyposis colorectal neoplasms	2019-12-31	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000625384	SCV000745187	benign	Hereditary nonpolyposis colorectal cancer type 4	2017-05-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000625384	SCV000785289	benign	Hereditary nonpolyposis colorectal cancer type 4	2017-07-07	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000079106	SCV000257309	benign	not specified		no assertion criteria provided	clinical testing