Submissions for variant NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)

gnomAD frequency: 0.00396  dbSNP: rs139367209

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145127	SCV000192172	benign	not specified	2016-02-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145127	SCV000226820	benign	not specified	2015-01-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261763	SCV000352703	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000435626	SCV000510694	likely benign	not provided	2016-09-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000145127	SCV000512115	benign	not specified	2016-06-20	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	RCV000435626	SCV001037442	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000435626	SCV001143069	benign	not provided	2018-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000435626	SCV001147575	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ASPM: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000261763	SCV002795549	likely benign	Microcephaly 5, primary, autosomal recessive	2021-12-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000261763	SCV004178682	likely benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927419	SCV004745862	benign	ASPM-related condition	2020-04-02	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).