Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768331 | SCV000899011 | uncertain significance | Asthma, nasal polyps, and aspirin intolerance | 2018-10-12 | criteria provided, single submitter | clinical testing | TBX21 NM_013351.1 exon 1 p.Gly28Asp (c.83G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is limited or unavailable; 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. |
Center for Genomics, |
RCV003224456 | SCV003920530 | uncertain significance | Asthma, nasal polyps, and aspirin intolerance; Immunodeficiency 88 | 2021-03-30 | criteria provided, single submitter | clinical testing | TBX21 NM_013351.1 exon 1 p.Gly28Asp (c.83G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is limited or unavailable; 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. |