Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178607 | SCV000230722 | uncertain significance | not provided | 2015-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079177 | SCV001041156 | likely benign | Combined immunodeficiency due to LRBA deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000178607 | SCV001746805 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001079177 | SCV002495826 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2021-05-04 | criteria provided, single submitter | clinical testing | LRBA NM_006726.4 exon 46 p.Thr2307Asn (c.6920C>A):This variant has not been reported in the literature but is present in 0.7% (84/10610) of Finnish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/4-150436758-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:197550). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003927666 | SCV004737550 | likely benign | LRBA-related condition | 2019-09-17 | 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). |