ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.1458_1459del (p.Val487fs) (rs1556206910)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000627044 SCV000747749 pathogenic Syndromic X-linked mental retardation, Cabezas type 2017-06-19 criteria provided, single submitter clinical testing This hemizygous variant in the CUL4B gene was identified in a young patient with developmental disorder.

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