Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647950 | SCV000769758 | likely benign | MHC class II deficiency | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000647950 | SCV000898932 | uncertain significance | MHC class II deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | RFXANK NM_003721 exon 3 p.Ala32Val (c.95C>T):This variant has not been reported in the literature but is present in 99/20432 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs114064359). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |