ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=) (rs768819413)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetech,Genetech Research Institute RCV000207425 SCV000262592 uncertain significance Common variable immunodeficiency 2 no assertion criteria provided case-control This variation was only found in one of our clinically diagnosed CVID patients. However it doesn't necessarily alter the amino acid which is being translated. Therefore its more unlikely that NG_007281.1:g.36585G>C could cause the disease.

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