ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)

gnomAD frequency: 0.00001  dbSNP: rs587783390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145486 SCV000192571 pathogenic Microcephaly 3, primary, autosomal recessive 2013-03-06 criteria provided, single submitter clinical testing
UCLA Clinical Genomics Center, UCLA RCV000145486 SCV000255338 likely pathogenic Microcephaly 3, primary, autosomal recessive 2013-04-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727366 SCV000707906 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing

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