ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1305T>C (p.Leu435=) (rs778967807)

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
Invitae RCV001027932 SCV000749617 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010879 SCV001171135 likely benign Hereditary cancer-predisposing syndrome 2019-09-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Natera Inc RCV001027932 SCV001190661 likely benign Bloom syndrome 2019-05-20 no assertion criteria provided 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.