ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)

dbSNP: rs1057519396
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000417055 SCV000485011 pathogenic X-linked intellectual disability Cabezas type no assertion criteria provided clinical testing

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