Submissions for variant NM_006231.4(POLE):c.3651C>T (p.Leu1217=)

gnomAD frequency: 0.00001  dbSNP: rs765445494

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579428	SCV000535533	likely benign	not provided	2019-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001579428	SCV000556311	likely benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569691	SCV000671396	likely benign	Hereditary cancer-predisposing syndrome	2015-09-06	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579428	SCV001807209	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579428	SCV001918089	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579428	SCV001929794	likely benign	not provided		no assertion criteria provided	clinical testing