ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) (rs138963927)

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Total submissions: 1
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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 RCV000768102 SCV000899016 uncertain significance Agammaglobulinemia 8, autosomal dominant 2018-10-12 criteria provided, single submitter clinical testing TCF3 NM_003200.3 exon 5 p.Glu77Lys (c.229G>A): This variant has not been reported in the literature but is present in 0.01% (24/125150) of European alleles in the Genome Aggregation Database ( Evolutionary conservation is limited or unavailable; 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.

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