ClinVar Miner

Submissions for variant NM_013351.2(TBX21):c.83G>A (p.Gly28Asp)

dbSNP: rs1567918419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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, Ann and Robert H. Lurie Children's Hospital of Chicago 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.

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