Submissions for variant NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=)

gnomAD frequency: 0.02551  dbSNP: rs3739822

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145498	SCV000192584	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145498	SCV000313214	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398831	SCV000476908	likely benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000145498	SCV000512549	benign	not specified	2015-04-08	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.
Invitae	RCV002055875	SCV002467109	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145498	SCV001952383	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145498	SCV001965828	benign	not specified		no assertion criteria provided	clinical testing