Submissions for variant NM_002691.4(POLD1):c.447C>T (p.Tyr149=)

gnomAD frequency: 0.00004  dbSNP: rs527915939

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082761	SCV000558723	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565066	SCV000670943	likely benign	Hereditary cancer-predisposing syndrome	2016-09-01	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.
GeneDx	RCV000611085	SCV000730819	likely benign	not specified	2017-03-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000477325	SCV001134661	likely benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001082761	SCV004016670	likely benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing