ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1899-7C>A

dbSNP: rs1060501584
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000476856 SCV000546790 likely benign Ataxia-telangiectasia syndrome 2023-10-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189959 SCV001357358 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-10 criteria provided, single submitter clinical testing This variant causes a C>A nucleotide substitution at the -7 position of intron 12 of the ATM gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000476856 SCV002081650 uncertain significance Ataxia-telangiectasia syndrome 2020-09-10 no assertion criteria provided 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.