Submissions for variant NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)

gnomAD frequency: 0.00333  dbSNP: rs140922974

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145171	SCV000192220	benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145171	SCV000336909	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000903575	SCV000528523	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing
Invitae	RCV000903575	SCV001048049	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099996	SCV001256491	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.
CeGaT Center for Human Genetics Tuebingen	RCV000903575	SCV004125188	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BP7, BS1, BS2
Genome-Nilou Lab	RCV001099996	SCV004178601	benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917438	SCV004731369	benign	ASPM-related condition	2019-12-30	criteria provided, single submitter	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).