Submissions for variant NM_006231.4(POLE):c.4011C>T (p.Ser1337=)

gnomAD frequency: 0.00005  dbSNP: rs756716850

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001658062	SCV000289361	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575050	SCV000676213	likely benign	Hereditary cancer-predisposing syndrome	2015-07-15	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.
GeneDx	RCV001658062	SCV001874899	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487078	SCV002801258	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	2022-05-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000229137	SCV004017065	likely benign	Colorectal cancer, susceptibility to, 12	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001658062	SCV005217324	likely benign	not provided		criteria provided, single submitter	not provided