ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)

dbSNP: rs745645356
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000471201 SCV000547342 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-04-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581355 SCV000689402 likely benign Hereditary cancer-predisposing syndrome 2021-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581355 SCV001186231 likely benign Hereditary cancer-predisposing syndrome 2022-01-03 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.
GeneDx RCV001775807 SCV002012823 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.