Submissions for variant NM_000535.7(PMS2):c.706-6_706-4del

dbSNP: rs60794673

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000360811	SCV000339714	benign	not specified	2016-02-25	criteria provided, single submitter	clinical testing
Invitae	RCV000542435	SCV000625677	benign	Hereditary nonpolyposis colorectal neoplasms	2017-06-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000582161	SCV000691106	benign	Hereditary cancer-predisposing syndrome	2017-07-06	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000985916	SCV001134610	benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000360811	SCV002568043	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150151	SCV003838392	likely benign	Breast and/or ovarian cancer	2023-05-24	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000582161	SCV004228074	benign	Hereditary cancer-predisposing syndrome	2024-01-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357008	SCV001552330	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing	Gnom AD population frequency 44%