ClinVar Miner

Submissions for variant NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) (rs148700620)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175044 SCV000226471 likely benign not specified 2014-05-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175044 SCV000247142 benign not specified 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000175044 SCV000512782 likely benign not specified 2016-09-26 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.
Athena Diagnostics Inc RCV000711343 SCV000841694 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718729 SCV000849593 benign History of neurodevelopmental disorder 2016-07-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000600141 SCV001158977 benign Syndromic X-linked mental retardation, Cabezas type 2019-03-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600141 SCV000734737 likely benign Syndromic X-linked mental retardation, Cabezas type no assertion criteria provided clinical testing

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