ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.793-17T>C

gnomAD frequency: 0.00002  dbSNP: rs778511901
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436257 SCV000523996 likely benign not specified 2017-07-18 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.
Color Diagnostics, LLC DBA Color Health RCV000581701 SCV000689726 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Counsyl RCV000662961 SCV000785933 likely benign Familial cancer of breast 2018-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000662961 SCV002348739 benign Familial cancer of breast 2024-01-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662961 SCV004020159 likely benign Familial cancer of breast 2023-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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.