Submissions for variant NM_018136.5(ASPM):c.10331+8A>G

gnomAD frequency: 0.77181  dbSNP: rs10754213

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000145076	SCV000228470	benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145076	SCV000313162	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606840	SCV000352616	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	RCV000710079	SCV000612412	benign	not provided	2017-08-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606840	SCV001775388	benign	Microcephaly 5, primary, autosomal recessive	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000710079	SCV001838792	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000710079	SCV002416054	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145076	SCV000192117	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606840	SCV000733965	benign	Microcephaly 5, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145076	SCV001955997	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145076	SCV001975741	benign	not specified		no assertion criteria provided	clinical testing