Submissions for variant NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)

gnomAD frequency: 0.04499  dbSNP: rs16841081

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145110	SCV000167040	benign	not specified	2014-04-28	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.
Genetic Services Laboratory, University of Chicago	RCV000145110	SCV000192153	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145110	SCV000335812	benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020765	SCV000352718	benign	Microcephaly 5, primary, autosomal recessive	2018-01-12	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	RCV000710629	SCV000840876	benign	not provided	2018-01-24	criteria provided, single submitter	clinical testing
Invitae	RCV000710629	SCV002410230	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000020765	SCV002802543	benign	Microcephaly 5, primary, autosomal recessive	2022-04-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020765	SCV004178703	benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020765	SCV000041344	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710629	SCV001797377	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145110	SCV001970578	benign	not specified		no assertion criteria provided	clinical testing