Submissions for variant NM_002691.4(POLD1):c.1495-14G>A

gnomAD frequency: 0.00012  dbSNP: rs542376819

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000422758	SCV000521384	likely benign	not specified	2016-11-03	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.
Counsyl	RCV000663225	SCV000786421	likely benign	Colorectal cancer, susceptibility to, 10	2018-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV000663225	SCV002418661	likely benign	Colorectal cancer, susceptibility to, 10	2023-12-14	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000663225	SCV004018518	likely benign	Colorectal cancer, susceptibility to, 10	2023-04-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000422758	SCV004242986	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972606	SCV004790726	likely benign	POLD1-related condition	2021-12-22	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).