ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.960-3C>T

dbSNP: rs878962653
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961672 SCV002252584 likely benign Bloom syndrome 2024-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303530 SCV003999936 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-03 criteria provided, single submitter clinical testing The c.960-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 4 in the BLM gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.