ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.222T>C (p.Cys74=)

dbSNP: rs1168791343
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 RCV001014825 SCV001175584 likely benign Hereditary cancer-predisposing syndrome 2019-06-11 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.
Color Diagnostics, LLC DBA Color Health RCV001014825 SCV001345876 likely benign Hereditary cancer-predisposing syndrome 2019-04-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193016 SCV001361543 likely benign not specified 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV002068895 SCV002413260 likely benign Familial cancer of breast 2023-04-07 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.