Submissions for variant NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)

gnomAD frequency: 0.84114  dbSNP: rs4836822

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145507	SCV000313216	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407188	SCV000476957	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	RCV000020847	SCV000744366	benign	Microcephaly 3, primary, autosomal recessive	2017-05-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020847	SCV001775632	benign	Microcephaly 3, primary, autosomal recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001642232	SCV001856672	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001642232	SCV002404471	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001642232	SCV005321093	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020847	SCV000041435	not provided	Microcephaly 3, primary, autosomal recessive		no assertion provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000145507	SCV000192595	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000020847	SCV000734633	benign	Microcephaly 3, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145507	SCV001958713	benign	not specified		no assertion criteria provided	clinical testing