ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=)

gnomAD frequency: 0.09053  dbSNP: rs6478475
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145480 SCV000167636 benign not specified 2013-12-18 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.
Genetic Services Laboratory, University of Chicago RCV000145480 SCV000192565 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000145480 SCV000313212 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316695 SCV000476924 likely benign Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002055451 SCV002394527 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000145480 SCV001953812 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000145480 SCV001969489 benign not specified no assertion criteria provided clinical testing

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