ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2377-6T>A

dbSNP: rs876660963
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656757 SCV000278815 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Also known as IVS17-6T>A; Observed in individuals with breast and/or ovarian cancer (Thorstenson 2003, Hauke 2018); This variant is associated with the following publications: (PMID: 12810666, 29522266)
Labcorp Genetics (formerly Invitae), Labcorp RCV000468699 SCV000547015 likely benign Ataxia-telangiectasia syndrome 2024-01-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000656757 SCV000706976 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771210 SCV000903246 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288903 SCV002580969 uncertain significance Familial cancer of breast 2022-07-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000656757 SCV004702654 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing ATM: PM2, BP4
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV004689685 SCV005184337 likely benign Hereditary breast ovarian cancer syndrome 2024-05-02 criteria provided, single submitter curation According to the ClinGen ACMG ATM v1.1.0 criteria we chose these criteria: PM2 (supporting pathogenic): Use as PM2_Supporting for variants with a general population frequency≤.001% in all sub-populations when N>1., BP7 (medium benign): RNA-Analysis showed no effect on splicing
Natera, Inc. RCV000468699 SCV002077728 uncertain significance Ataxia-telangiectasia syndrome 2020-08-24 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.