Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768012 | SCV000898804 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | LRBA NM_006726.4 exon 2 p.Ile65Thr (c.194T>C): This variant has not been reported in the literature but is present in 0.7% (169/24028) of African alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs148385798). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV000768012 | SCV001107515 | benign | Combined immunodeficiency due to LRBA deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000768012 | SCV001525230 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2019-07-02 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003918252 | SCV004736361 | likely benign | LRBA-related disorder | 2019-06-25 | 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). |