Submissions for variant NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) (rs1805323)

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076810	SCV000108296	no known pathogenicity	Lynch syndrome	2013-09-05	reviewed by expert panel	research	MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000079104	SCV000110973	benign	not specified	2018-03-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000130906	SCV000185815	benign	Hereditary cancer-predisposing syndrome	2014-07-31	criteria provided, single submitter	clinical testing
Color	RCV000130906	SCV000292094	benign	Hereditary cancer-predisposing syndrome	2014-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000079104	SCV000304719	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000076810	SCV000469732	likely benign	Lynch syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000079104	SCV000592935	benign	not specified	2015-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000079104	SCV000604896	benign	not specified	2016-08-15	criteria provided, single submitter	clinical testing
Invitae	RCV000034616	SCV000625528	benign	not provided	2019-03-06	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000079104	SCV000711442	benign	not specified	2017-04-20	criteria provided, single submitter	clinical testing	p.Thr485Lys in exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 35% (3077/8632) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs1805323).
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000625385	SCV000745192	benign	Hereditary nonpolyposis colorectal cancer type 4	2017-05-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000625385	SCV000785345	benign	Hereditary nonpolyposis colorectal cancer type 4	2017-07-07	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034616	SCV000043428	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000079104	SCV000086044	not provided	not specified	2013-09-19	no assertion provided	reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000079104	SCV000691973	benign	not specified		no assertion criteria provided	clinical testing