Submissions for variant NM_018136.5(ASPM):c.937A>G (p.Ile313Val)

gnomAD frequency: 0.00029  dbSNP: rs12025066

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000020814	SCV000192284	uncertain significance	Microcephaly 5, primary, autosomal recessive	2014-05-29	criteria provided, single submitter	clinical testing
Invitae	RCV000914111	SCV001059271	benign	not provided	2023-08-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020814	SCV001256930	likely benign	Microcephaly 5, primary, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000914111	SCV001791938	likely benign	not provided	2019-07-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964808	SCV004783127	benign	ASPM-related condition	2019-08-14	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).
GeneReviews	RCV000020814	SCV000041401	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only