Submissions for variant NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)

gnomAD frequency: 0.00555  dbSNP: rs17886163

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000759042	SCV000167691	benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 27595995, 21244692, 26976419, 30851065)
Ambry Genetics	RCV000132487	SCV000187581	benign	Hereditary cancer-predisposing syndrome	2014-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000203747	SCV000262385	benign	Familial cancer of breast	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000203747	SCV000488435	benign	Familial cancer of breast	2016-03-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000132487	SCV000684582	benign	Hereditary cancer-predisposing syndrome	2014-11-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000120559	SCV000806867	benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000120559	SCV000860561	benign	not specified	2018-04-06	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759042	SCV000888103	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000759042	SCV000892300	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CHEK2: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000120559	SCV002070843	benign	not specified	2021-05-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000132487	SCV002537050	benign	Hereditary cancer-predisposing syndrome	2020-04-28	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149830	SCV003838120	benign	Breast and/or ovarian cancer	2022-05-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000203747	SCV004017049	benign	Familial cancer of breast	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000203747	SCV004020180	likely benign	Familial cancer of breast	2023-03-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120559	SCV004024689	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000759042	SCV005210263	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120559	SCV000084713	not provided	not specified	2013-09-19	no assertion provided	reference population
True Health Diagnostics	RCV000132487	SCV000788001	likely benign	Hereditary cancer-predisposing syndrome	2018-01-12	no assertion criteria provided	clinical testing