Submissions for variant NM_000535.7(PMS2):c.1713C>T (p.Leu571=)

gnomAD frequency: 0.00001  dbSNP: rs745774944

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000215344	SCV000273418	likely benign	Hereditary cancer-predisposing syndrome	2015-01-13	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.
Invitae	RCV000226812	SCV000285084	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001705208	SCV000518478	likely benign	not provided	2018-05-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000215344	SCV000909649	likely benign	Hereditary cancer-predisposing syndrome	2018-02-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491966	SCV004239589	likely benign	Breast and/or ovarian cancer	2023-06-22	criteria provided, single submitter	clinical testing