ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)

gnomAD frequency: 0.00500  dbSNP: rs2231487
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652061 SCV000773929 benign Vasculitis due to ADA2 deficiency 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811428 SCV001474056 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263908 SCV002543396 likely benign Autoinflammatory syndrome 2021-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811428 SCV005042002 benign not provided 2024-04-01 criteria provided, single submitter clinical testing ADA2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001811428 SCV005208889 likely benign not provided criteria provided, single submitter not provided

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.