Submissions for variant NM_002691.4(POLD1):c.639C>T (p.Thr213=)

gnomAD frequency: 0.00004  dbSNP: rs139949679

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000424704	SCV000520577	likely benign	not specified	2018-01-12	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	RCV000424704	SCV000601950	benign	not specified	2020-04-06	criteria provided, single submitter	clinical testing
Invitae	RCV001081668	SCV000646690	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572289	SCV000670950	likely benign	Hereditary cancer-predisposing syndrome	2015-12-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV003389718	SCV001152016	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	POLD1: BP4, BP7
Sema4, Sema4	RCV000572289	SCV002534694	benign	Hereditary cancer-predisposing syndrome	2021-04-19	criteria provided, single submitter	curation