Submissions for variant NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)

gnomAD frequency: 0.00011  dbSNP: rs563858170

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192474	SCV000246602	likely benign	not specified	2015-06-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000710651	SCV000339059	uncertain significance	not provided	2016-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000710651	SCV000722708	likely benign	not provided	2020-07-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710651	SCV000840900	uncertain significance	not provided	2018-04-10	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714630	SCV000845343	likely benign	Microcephaly 5, primary, autosomal recessive	2018-08-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710651	SCV001087387	benign	not provided	2023-11-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710651	SCV002562960	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ASPM: BP4
Ambry Genetics	RCV004020311	SCV004909791	likely benign	Inborn genetic diseases	2021-08-12	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.