ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs)

dbSNP: rs2061880735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262287 SCV001440099 pathogenic Agammaglobulinemia 8, autosomal dominant 2025-03-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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