Submissions for variant NM_006231.4(POLE):c.369G>A (p.Lys123=)

gnomAD frequency: 0.00001  dbSNP: rs1328407908

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000679624	SCV000653232	likely benign	not provided	2025-01-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679624	SCV000806765	likely benign	not provided	2017-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000679004	SCV002621294	likely benign	Hereditary cancer-predisposing syndrome	2019-10-29	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000679624	SCV004226397	uncertain significance	not provided	2022-04-04	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000679004	SCV000805297	likely benign	Hereditary cancer-predisposing syndrome	2018-06-05	no assertion criteria provided	clinical testing