Submissions for variant NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)

gnomAD frequency: 0.80210  dbSNP: rs1412640

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000145187	SCV000202194	benign	not specified	2014-02-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145187	SCV000313173	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020792	SCV000352658	benign	Microcephaly 5, 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.
Athena Diagnostics Inc	RCV000145187	SCV000612422	benign	not specified	2017-08-02	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000020792	SCV000744800	benign	Microcephaly 5, primary, autosomal recessive	2017-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020792	SCV001775393	benign	Microcephaly 5, primary, autosomal recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711081	SCV001945453	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001711081	SCV002424328	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020792	SCV000041376	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000145187	SCV000192236	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000020792	SCV000733970	benign	Microcephaly 5, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145187	SCV001955914	benign	not specified		no assertion criteria provided	clinical testing