ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.481-5T>C

dbSNP: rs374382703
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772393 SCV000905571 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772393 SCV002633995 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-03 criteria provided, single submitter clinical testing The c.481-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 6 in the RAD51D gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002534018 SCV002952663 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2022-03-28 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.