ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.1463C>T (p.Ser488Leu)

dbSNP: rs2125377904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001775186 SCV002011838 pathogenic B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 2021-11-04 no assertion criteria provided literature only

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