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: 4
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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
Breakthrough Genomics, Breakthrough Genomics RCV000833221 SCV005321049 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000145456 SCV000192541 likely benign not specified no assertion criteria provided clinical testing

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