ClinVar Miner

Submissions for variant NM_001079872.2(CUL4B):c.847-10del

dbSNP: rs762094686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480729 SCV000565682 benign not specified 2016-11-01 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 RCV001081350 SCV000762533 benign X-linked intellectual disability Cabezas type 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000640929 SCV001143657 benign not provided 2019-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374884 SCV002686308 benign Inborn genetic diseases 2014-09-16 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.
Fulgent Genetics, Fulgent Genetics RCV001081350 SCV002799454 likely benign X-linked intellectual disability Cabezas type 2022-05-17 criteria provided, single submitter clinical testing

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