ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.263_365+47delinsCAAAAAGAC

dbSNP: rs1580985027
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016171 SCV001177091 likely pathogenic Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing The c.263_365+47DEL150INSCAAAAAGAC alteration is a deletion of a portion of coding exon 3 of the RAD50 gene and extending 47 nucleotide into intron 3. This results in the deletion of a total of 150 nucleotides, including the last 103 nucleotides of coding exon 3. This deletion is likely to cause a disruption of normal RNA splicing and or a translational frameshift; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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.