ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)

gnomAD frequency: 0.00002  dbSNP: rs560781587
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216315 SCV000278001 likely benign Hereditary cancer-predisposing syndrome 2016-03-25 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.
Color Diagnostics, LLC DBA Color Health RCV000216315 SCV000913579 likely benign Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000872142 SCV001013914 likely benign Familial cancer of breast 2023-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193689 SCV001362701 likely benign not specified 2019-10-23 criteria provided, single submitter clinical testing

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.