ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7992C>T (p.Val2664=)

dbSNP: rs1591184637
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 RCV000981456 SCV001129429 likely benign Ataxia-telangiectasia syndrome 2020-07-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004588431 SCV005084317 benign Familial cancer of breast 2024-06-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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.