Submissions for variant NM_007194.4(CHEK2):c.381A>G (p.Glu127=)

gnomAD frequency: 0.00001  dbSNP: rs199929178

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213808	SCV000273744	likely benign	Hereditary cancer-predisposing syndrome	2015-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000456944	SCV000560994	likely benign	Familial cancer of breast	2023-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001722178	SCV000729437	likely benign	not provided	2019-12-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26787654)
Color Diagnostics, LLC DBA Color Health	RCV000213808	SCV000904456	likely benign	Hereditary cancer-predisposing syndrome	2018-10-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000607166	SCV000919221	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001722178	SCV002046124	likely benign	not provided	2021-05-25	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000607166	SCV004024665	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing