ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.131GCAGCAGTA[1] (p.Ser47_Ser49del)

dbSNP: rs777238263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573363 SCV002032391 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 25385192)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573363 SCV001799132 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727885 SCV001974983 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003931210 SCV004750380 likely benign CUL4B-related disorder 2022-02-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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