ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6808-20A>G

gnomAD frequency: 0.00001  dbSNP: rs1240565463
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
GeneDx RCV000613130 SCV000720052 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860282 SCV002220721 likely benign Ataxia-telangiectasia syndrome 2023-12-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592923 SCV005085009 likely benign Familial cancer of breast 2024-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA 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.