ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)

gnomAD frequency: 0.00013  dbSNP: rs185389157
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893153 SCV001037070 benign X-linked intellectual disability Cabezas type 2023-05-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818680 SCV002066079 benign not specified 2019-03-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884791 SCV004699998 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CUL4B: BP4, BP7, BS2

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