ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.413+3A>G

gnomAD frequency: 0.12302  dbSNP: rs8058187
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
Invitae RCV001516430 SCV001724706 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001655760 SCV001868963 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516430 SCV002524367 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268500 SCV002551726 benign not specified 2023-08-15 criteria provided, single submitter 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.