Submissions for variant NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)

gnomAD frequency: 0.00207  dbSNP: rs148328539

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727273	SCV000278802	likely benign	not provided	2020-12-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000222163	SCV000593440	likely benign	not specified	2016-07-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727273	SCV000707164	uncertain significance	not provided	2017-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000727273	SCV001026911	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003137830	SCV003825138	uncertain significance	Microcephaly 5, primary, autosomal recessive	2021-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020699	SCV004909778	likely benign	Inborn genetic diseases	2021-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003937863	SCV004748646	likely benign	ASPM-related disorder	2019-10-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).