Submissions for variant NM_006231.4(POLE):c.5478G>T (p.Arg1826=)

gnomAD frequency: 0.00003  dbSNP: rs537648186

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000759307	SCV000289422	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000759307	SCV000530695	likely benign	not provided	2020-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573268	SCV000671245	likely benign	Hereditary cancer-predisposing syndrome	2015-08-27	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.
PreventionGenetics, part of Exact Sciences	RCV000417656	SCV000806804	benign	not specified	2017-08-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759307	SCV000888554	likely benign	not provided	2017-01-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000759307	SCV001148879	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	POLE: BP4, BP7, BS2
Sema4, Sema4	RCV000573268	SCV002536890	benign	Hereditary cancer-predisposing syndrome	2020-09-29	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002503912	SCV002807965	likely benign	Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	2021-10-27	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001083742	SCV004016716	benign	Colorectal cancer, susceptibility to, 12	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000417656	SCV005090434	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing