ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1096-10T>C

dbSNP: rs1555913946
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
Color Diagnostics, LLC DBA Color Health RCV000581180 SCV000689631 likely benign Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876089 SCV001018612 likely benign Familial cancer of breast 2024-12-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581180 SCV002537021 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-24 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000876089 SCV005897432 likely benign Familial cancer of breast 2024-10-04 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.