ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1608-3T>C

gnomAD frequency: 0.00003  dbSNP: rs774196176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220922 SCV000273720 likely benign Hereditary cancer-predisposing syndrome 2019-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000538430 SCV000622272 likely benign Ataxia-telangiectasia syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001705209 SCV000729483 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220922 SCV000905480 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804954 SCV002051149 uncertain significance not specified 2021-12-16 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.