Submissions for variant NM_000535.7(PMS2):c.321G>C (p.Arg107=)

dbSNP: rs756420858

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213219	SCV000279629	uncertain significance	not provided	2019-06-10	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics	RCV001019303	SCV001180640	likely benign	Hereditary cancer-predisposing syndrome	2019-01-23	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	RCV001487947	SCV001692447	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-19	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001019303	SCV001734039	likely benign	Hereditary cancer-predisposing syndrome	2020-07-28	criteria provided, single submitter	clinical testing