Submissions for variant NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=)

gnomAD frequency: 0.00537  dbSNP: rs77925703

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145475	SCV000192560	benign	not specified	2013-07-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286232	SCV000476926	benign	Microcephaly 3, primary, autosomal recessive	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001650991	SCV001868398	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001650991	SCV002424536	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975142	SCV004790856	benign	CDK5RAP2-related condition	2019-09-05	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).