Submissions for variant NM_006231.4(POLE):c.5253C>T (p.Ala1751=)

gnomAD frequency: 0.00005  dbSNP: rs765888059

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703177	SCV000556294	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001700379	SCV002065783	uncertain significance	not specified	2021-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341074	SCV002643813	likely benign	Hereditary cancer-predisposing syndrome	2018-03-23	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001700379	SCV004027303	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700379	SCV001920400	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703177	SCV001931860	likely benign	not provided		no assertion criteria provided	clinical testing