ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3403-8_3403-4del

dbSNP: rs1555091114
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
Color Diagnostics, LLC DBA Color Health RCV000581979 SCV000687479 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053060 SCV001217302 likely benign Ataxia-telangiectasia syndrome 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581979 SCV002614972 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-26 criteria provided, single submitter clinical testing The c.3403-8_3403-4delTTTTT intronic variant is located upstream from coding exon 23 in the ATM gene. This variant results from a deletion of 5 nucleotides at positions c.3403-8 to c.3403-4. These nucleotide positions are generally well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, 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.