ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.15G>C (p.Arg5=)

gnomAD frequency: 0.00001  dbSNP: rs769204862
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439816 SCV000531304 likely benign not specified 2016-08-26 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 RCV000561876 SCV000660818 likely benign Hereditary cancer-predisposing syndrome 2015-10-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439816 SCV000696752 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000561876 SCV000904052 likely benign Hereditary cancer-predisposing syndrome 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV000878704 SCV001021654 likely benign Familial cancer of breast 2023-11-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561876 SCV002527030 likely benign Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter curation

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.