Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239262 | SCV000296871 | likely benign | not specified | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000239262 | SCV000333565 | benign | not specified | 2015-09-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000558236 | SCV000641914 | benign | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310341 | SCV001500095 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | CYBA: BP4, BS2 |
Gene |
RCV001310341 | SCV001778805 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 10910929, 27048830, 29454792, 20167518) |
Prevention |
RCV003930018 | SCV004746112 | likely benign | CYBA-related condition | 2020-02-25 | 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). |