ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met)

gnomAD frequency: 0.00612  dbSNP: rs114128928
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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 RCV000145500 SCV000192586 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000337068 SCV000476907 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000879755 SCV000714513 benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000879755 SCV001022807 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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