ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.842_857del (p.Ile281fs)

dbSNP: rs2087491615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052207 SCV002318768 uncertain significance Immunodeficiency, common variable, 2 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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