ClinVar Miner

Submissions for variant NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)

gnomAD frequency: 0.00227  dbSNP: rs74317375
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081062 SCV000654977 benign Vasculitis due to ADA2 deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000544116 SCV001153608 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ADA2: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000544116 SCV001160600 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821417 SCV002067953 likely benign not specified 2021-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261093 SCV002542767 likely benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV001081062 SCV002761461 likely benign Vasculitis due to ADA2 deficiency 2020-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915350 SCV004736706 likely benign ADA2-related condition 2021-06-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Immunology, Hospital Universitario Virgen del Rocio RCV000495242 SCV000580677 pathogenic Behcet disease 2017-06-25 no assertion criteria provided case-control
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000544116 SCV001928809 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000544116 SCV001964475 likely benign not provided 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.