Submissions for variant NM_000535.7(PMS2):c.2517C>T (p.His839=)

gnomAD frequency: 0.00003  dbSNP: rs747600189

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000572773	SCV000663485	likely benign	Hereditary cancer-predisposing syndrome	2016-03-10	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.
PreventionGenetics, part of Exact Sciences	RCV000679360	SCV000806210	likely benign	not provided	2017-04-21	criteria provided, single submitter	clinical testing
Invitae	RCV001086835	SCV001006215	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000679360	SCV001811028	likely benign	not provided	2018-07-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572773	SCV002530313	likely benign	Hereditary cancer-predisposing syndrome	2021-10-07	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000679360	SCV004185425	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PMS2: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV000572773	SCV004358957	likely benign	Hereditary cancer-predisposing syndrome	2022-08-29	criteria provided, single submitter	clinical testing