Submissions for variant NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=)

gnomAD frequency: 0.18906  dbSNP: rs2501727

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145463	SCV000167634	benign	not specified	2013-12-18	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.
Genetic Services Laboratory, University of Chicago	RCV000145463	SCV000192548	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357227	SCV000476939	likely benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606617	SCV000744365	benign	Microcephaly 3, primary, autosomal recessive	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV002055450	SCV002436505	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606617	SCV000734632	benign	Microcephaly 3, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145463	SCV001953911	benign	not specified		no assertion criteria provided	clinical testing