Submissions for variant NM_018136.5(ASPM):c.9444+8T>G

gnomAD frequency: 0.00278  dbSNP: rs140150599

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000176322	SCV000192287	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000176322	SCV000227956	benign	not specified	2015-05-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390996	SCV000352628	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	RCV000176322	SCV000520608	likely benign	not specified	2018-03-02	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.
Invitae	RCV000904870	SCV001049420	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000904870	SCV001143080	benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000904870	SCV003916536	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BS2
Genome-Nilou Lab	RCV000390996	SCV004172569	likely benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing