Submissions for variant NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg)

gnomAD frequency: 0.00052  dbSNP: rs139706626

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145465	SCV000192550	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000300011	SCV000476938	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000953609	SCV001100187	benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000953609	SCV001822346	likely benign	not provided	2019-03-17	criteria provided, single submitter	clinical testing