Submissions for variant NM_000535.7(PMS2):c.687T>C (p.Ser229=)

gnomAD frequency: 0.00001  dbSNP: rs786201508

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163775	SCV000214356	likely benign	Hereditary cancer-predisposing syndrome	2014-11-06	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	RCV001084511	SCV000562211	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163775	SCV000691097	likely benign	Hereditary cancer-predisposing syndrome	2017-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000659069	SCV000729481	likely benign	not provided	2018-12-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659069	SCV000780878	uncertain significance	not provided	2017-11-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995281	SCV004839932	likely benign	Lynch syndrome	2023-06-08	criteria provided, single submitter	clinical testing