Submissions for variant NM_000535.7(PMS2):c.1338T>C (p.Pro446=)

dbSNP: rs786203033

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166165	SCV000216939	likely benign	Hereditary cancer-predisposing syndrome	2014-09-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Invitae	RCV000204615	SCV000259349	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001721079	SCV000516767	likely benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166165	SCV000686121	likely benign	Hereditary cancer-predisposing syndrome	2017-05-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000421832	SCV001361923	likely benign	not specified	2020-01-31	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000421832	SCV002550722	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995485	SCV004844240	likely benign	Lynch syndrome	2023-12-13	criteria provided, single submitter	clinical testing