ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1191G>C (p.Gly397=)

gnomAD frequency: 0.00001  dbSNP: rs780393464
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000538376 SCV000623223 likely benign Bloom syndrome 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341243 SCV002642741 likely benign Hereditary cancer-predisposing syndrome 2021-09-08 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.
Natera, Inc. RCV000538376 SCV001460773 likely benign Bloom syndrome 2020-09-16 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.