Submissions for variant NM_002691.4(POLD1):c.1503C>T (p.Asn501=)

gnomAD frequency: 0.00007  dbSNP: rs371647100

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086163	SCV000287521	benign	Colorectal cancer, susceptibility to, 10	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000229903	SCV000524913	likely benign	not provided	2020-11-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22722839)
Ambry Genetics	RCV000567813	SCV000670972	likely benign	Hereditary cancer-predisposing syndrome	2015-06-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Eurofins Ntd Llc (ga)	RCV000420407	SCV000859964	likely benign	not specified	2018-03-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000229903	SCV001134628	benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000567813	SCV002534585	benign	Hereditary cancer-predisposing syndrome	2021-01-11	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000420407	SCV002551916	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541394	SCV004770862	likely benign	POLD1-related disorder	2020-03-03	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).