Submissions for variant NM_007194.4(CHEK2):c.474A>C (p.Ala158=)

dbSNP: rs745699485

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162779	SCV000213256	likely benign	Hereditary cancer-predisposing syndrome	2014-12-26	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	RCV001082881	SCV000261336	likely benign	Familial cancer of breast	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162779	SCV000684644	likely benign	Hereditary cancer-predisposing syndrome	2016-04-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000855557	SCV000698804	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000587121	SCV000806881	likely benign	not provided	2017-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000587121	SCV001946045	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000855557	SCV002072429	likely benign	not specified	2019-04-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162779	SCV002537439	likely benign	Hereditary cancer-predisposing syndrome	2021-05-26	criteria provided, single submitter	curation