ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)

gnomAD frequency: 0.00390  dbSNP: rs143580749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615115 SCV000714388 benign not specified 2018-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000640930 SCV000762534 benign X-linked intellectual disability Cabezas type 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438551 SCV002745302 benign Inborn genetic diseases 2017-06-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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