Submissions for variant NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)

gnomAD frequency: 0.70962  dbSNP: rs4837768

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145488	SCV000313213	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331745	SCV000476921	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	RCV000020841	SCV000744364	benign	Microcephaly 3, primary, autosomal recessive	2017-05-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020841	SCV001775630	benign	Microcephaly 3, primary, autosomal recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711082	SCV001945967	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001711082	SCV002406813	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711082	SCV005318706	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020841	SCV000041429	not provided	Microcephaly 3, primary, autosomal recessive		no assertion provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000145488	SCV000192573	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000020841	SCV000734631	benign	Microcephaly 3, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145488	SCV001953800	benign	not specified		no assertion criteria provided	clinical testing