Submissions for variant NM_007194.4(CHEK2):c.1462-7C>G

gnomAD frequency: 0.00002  dbSNP: rs730881707

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160460	SCV000211025	benign	not specified	2014-09-14	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.
Invitae	RCV000203819	SCV000260889	likely benign	Familial cancer of breast	2024-01-03	criteria provided, single submitter	clinical testing
Counsyl	RCV000203819	SCV000489455	uncertain significance	Familial cancer of breast	2016-10-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776283	SCV000911568	likely benign	Hereditary cancer-predisposing syndrome	2017-12-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798551	SCV002043395	uncertain significance	Breast and/or ovarian cancer	2019-09-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002510799	SCV002821113	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	CHEK2: PM2:Supporting, BP4
Myriad Genetics, Inc.	RCV000203819	SCV004020115	uncertain significance	Familial cancer of breast	2023-03-08	criteria provided, single submitter	clinical testing	This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002510799	SCV004221728	uncertain significance	not provided	2022-09-27	criteria provided, single submitter	clinical testing	To the best of our knowledge, the variant has not been reported in individuals with CHEK2-related conditions in the published literature. The frequency of this variant in the general population, 0.00004 (5/123914 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on CHEK2 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.