Submissions for variant NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser)

gnomAD frequency: 0.01549  dbSNP: rs16909747

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145490	SCV000192576	benign	not specified	2013-04-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370951	SCV000476919	likely benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000145490	SCV000512548	benign	not specified	2015-09-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000961959	SCV001109018	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000961959	SCV005225472	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003895027	SCV004711262	benign	CDK5RAP2-related disorder	2019-07-31	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).