Submissions for variant NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=)

gnomAD frequency: 0.00243  dbSNP: rs77100552

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145503	SCV000192590	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385349	SCV000476905	likely benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000145503	SCV000724949	benign	not specified	2017-11-14	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	RCV000964309	SCV001111508	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492527	SCV002799332	likely benign	Microcephaly 3, primary, autosomal recessive	2022-03-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965098	SCV004793367	benign	CDK5RAP2-related disorder	2019-11-14	criteria provided, single submitter	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).