Submissions for variant NM_000535.7(PMS2):c.1368T>C (p.Ser456=)

gnomAD frequency: 0.00001  dbSNP: rs587780723

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000123076	SCV000166371	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562046	SCV000670765	likely benign	Hereditary cancer-predisposing syndrome	2015-12-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV000562046	SCV000911286	likely benign	Hereditary cancer-predisposing syndrome	2018-03-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001255469	SCV001431884	likely benign	not specified	2020-08-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001711209	SCV001944513	benign	not provided	2015-05-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149839	SCV003838388	likely benign	Breast and/or ovarian cancer	2021-12-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711209	SCV004010653	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	PMS2: BP4, BP7