ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.1093-27A>G

gnomAD frequency: 0.83235  dbSNP: rs2095064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833221 SCV000974982 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV001554397 SCV001775631 benign Microcephaly 3, primary, autosomal recessive 2021-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145456 SCV000192541 likely benign not specified no assertion criteria provided clinical testing

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