ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5899-8del

dbSNP: rs538488507
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
Illumina Laboratory Services, Illumina RCV000259799 SCV000441414 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001512667 SCV001720121 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001512667 SCV004148492 benign not provided 2022-10-01 criteria provided, single submitter clinical testing ATR: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003932390 SCV004755987 benign ATR-related condition 2024-01-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.