ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)

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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 Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989430 SCV004808283 uncertain significance B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 2024-03-29 criteria provided, single submitter clinical testing

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