ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)

dbSNP: rs754282058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194268 SCV000246930 pathogenic Microcephaly 3, primary, autosomal recessive 2015-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000194268 SCV002025131 likely pathogenic Microcephaly 3, primary, autosomal recessive 2020-03-09 criteria provided, single submitter clinical testing

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