Submissions for variant NM_000535.7(PMS2):c.1455G>A (p.Thr485=)

gnomAD frequency: 0.00001  dbSNP: rs752665758

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165577	SCV000216311	likely benign	Hereditary cancer-predisposing syndrome	2014-08-11	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	RCV000629767	SCV000750723	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165577	SCV001355049	likely benign	Hereditary cancer-predisposing syndrome	2018-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001651036	SCV001867792	likely benign	not provided	2019-12-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000165577	SCV002529798	likely benign	Hereditary cancer-predisposing syndrome	2022-02-19	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316044	SCV004016593	likely benign	Lynch syndrome 4	2023-07-07	criteria provided, single submitter	clinical testing