ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2377-19T>G

gnomAD frequency: 0.00001  dbSNP: rs775771700
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420034 SCV000522394 likely benign not specified 2016-08-22 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.
Color Diagnostics, LLC DBA Color Health RCV000771773 SCV000904448 likely benign Hereditary cancer-predisposing syndrome 2017-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062498 SCV002486216 likely benign Ataxia-telangiectasia syndrome 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771773 SCV004849076 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing The c.2377-19T>G intronic alteration consists of a T to G substitution 19 nucleotides before coding exon 15 in the ATM gene. Based on insufficient or conflicting evidence, 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.