Submissions for variant NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)

dbSNP: rs3780679

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145471	SCV000167635	benign	not specified	2014-04-28	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.
Genetic Services Laboratory, University of Chicago	RCV000145471	SCV000192556	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145471	SCV000313211	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285028	SCV000476929	likely benign	Primary Microcephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV002054458	SCV002324660	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020836	SCV000041423	not provided	Microcephaly 3, primary, autosomal recessive		no assertion provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145471	SCV001955312	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145471	SCV001970307	benign	not specified		no assertion criteria provided	clinical testing