ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.847-17T>C

gnomAD frequency: 0.00006  dbSNP: rs199780411
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212437 SCV000167690 benign not specified 2014-04-02 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 RCV000130978 SCV000185895 likely benign Hereditary cancer-predisposing syndrome 2015-01-05 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.
Counsyl RCV000411612 SCV000489508 likely benign Familial cancer of breast 2016-10-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000130978 SCV000684688 likely benign Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing
Invitae RCV000411612 SCV002129811 likely benign Familial cancer of breast 2024-02-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000411612 SCV004017378 benign Familial cancer of breast 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411612 SCV004020207 benign Familial cancer of breast 2023-03-09 criteria provided, single submitter clinical testing This variant is considered 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].

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.