Submissions for variant NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)

gnomAD frequency: 0.00032  dbSNP: rs587780890

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212470	SCV000167693	benign	not specified	2013-10-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000124266	SCV000213524	likely benign	Hereditary cancer-predisposing syndrome	2014-06-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000195471	SCV000253481	likely benign	Familial cancer of breast	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000195471	SCV000489050	likely benign	Familial cancer of breast	2016-08-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000124266	SCV000684602	likely benign	Hereditary cancer-predisposing syndrome	2015-02-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679676	SCV000806872	likely benign	not provided	2018-01-19	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679676	SCV000888108	likely benign	not provided	2022-08-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000212470	SCV002070841	likely benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000124266	SCV002537384	likely benign	Hereditary cancer-predisposing syndrome	2020-11-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000679676	SCV002585917	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CHEK2: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212470	SCV002600366	likely benign	not specified	2022-10-09	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000195471	SCV004044117	benign	Familial cancer of breast	2023-04-26	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000124266	SCV004228034	likely benign	Hereditary cancer-predisposing syndrome	2023-11-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000679676	SCV005210261	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000679676	SCV001806998	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000212470	SCV001905935	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679676	SCV001955255	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000679676	SCV002036225	likely benign	not provided		no assertion criteria provided	clinical testing