ClinVar Miner

Submissions for variant NM_006509.4(RELB):c.401AGC[3] (p.Gln135dup)

dbSNP: rs1971369702
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU, Chengde Medical University RCV001290322 SCV001473636 uncertain significance Immunodeficiency 53 2020-06-28 no assertion criteria provided case-control The lymphocyte count, CD3+ T lymphocyte count, CD3+CD4+ T lymphocyte count, CD3+CD8+ T lymphocyte count, and NK cell count decreased, while the number of CD19-positive B cells increased. However, the ratio of CD3+CD4+:CD3+CD8+ T cells increased.

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