Submissions for variant NM_002691.4(POLD1):c.1695C>T (p.His565=)

gnomAD frequency: 0.00002  dbSNP: rs763347860

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698258	SCV000532372	likely benign	not provided	2019-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV000560370	SCV000646502	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571443	SCV000671013	likely benign	Hereditary cancer-predisposing syndrome	2016-07-06	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000560370	SCV004016651	likely benign	Colorectal cancer, susceptibility to, 10	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897924	SCV004710964	likely benign	POLD1-related condition	2022-12-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
True Health Diagnostics	RCV000571443	SCV000805286	likely benign	Hereditary cancer-predisposing syndrome	2018-05-01	no assertion criteria provided	clinical testing