ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.880-7A>G

gnomAD frequency: 0.01314  dbSNP: rs76132121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145509 SCV000192597 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354445 SCV000476956 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000145509 SCV000512543 benign not specified 2015-09-25 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 RCV000973442 SCV001121199 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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