Total submissions: 10
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 | |
Ce |
RCV000544116 | SCV001153608 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ADA2: BS2 |
ARUP Laboratories, |
RCV000544116 | SCV001160600 | likely benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821417 | SCV002067953 | likely benign | not specified | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002261093 | SCV002542767 | likely benign | Autoinflammatory syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV001081062 | SCV002761461 | likely benign | Vasculitis due to ADA2 deficiency | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Prevention |
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, |
RCV000495242 | SCV000580677 | pathogenic | Behcet disease | 2017-06-25 | no assertion criteria provided | case-control | |
Genome Diagnostics Laboratory, |
RCV000544116 | SCV001928809 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000544116 | SCV001964475 | likely benign | not provided | no assertion criteria provided | clinical testing |