Submissions for variant NM_018136.5(ASPM):c.3742-10T>G

gnomAD frequency: 0.00665  dbSNP: rs41299587

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145118	SCV000192162	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145118	SCV000226519	benign	not specified	2014-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000609886	SCV000352710	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000145118	SCV000512113	benign	not specified	2016-08-03	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.
Athena Diagnostics	RCV000710080	SCV000612416	benign	not provided	2018-04-26	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000609886	SCV000744804	benign	Microcephaly 5, primary, autosomal recessive	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710080	SCV001105117	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710080	SCV004125199	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ASPM: BS1, BS2
Genome-Nilou Lab	RCV000609886	SCV004172573	benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710080	SCV005260984	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609886	SCV000733974	likely benign	Microcephaly 5, primary, autosomal recessive		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145118	SCV001957901	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927418	SCV004741966	benign	ASPM-related disorder	2019-07-18	no assertion criteria provided	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).