Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000935061 | SCV001080800 | likely benign | Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000935061 | SCV001468350 | uncertain significance | Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | IRF8 NM_002163.2 exon 7 c.988+10G>A: This variant has not been reported in the literature but is present in 0.008% (2/24744) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-85952419-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:757443). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003978097 | SCV004787602 | likely benign | IRF8-related condition | 2020-03-09 | 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). |