Submissions for variant NM_018136.5(ASPM):c.2805T>C (p.Ser935=)

gnomAD frequency: 0.01101  dbSNP: rs113161395

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145103	SCV000192146	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000145103	SCV000512111	benign	not specified	2016-08-24	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.
Illumina Laboratory Services, Illumina	RCV000020757	SCV001254900	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054455	SCV002405141	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054455	SCV004009915	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	ASPM: BP4, BP7, BS1, BS2
Genome-Nilou Lab	RCV000020757	SCV004178712	benign	Microcephaly 5, primary, autosomal recessive	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054455	SCV005285987	benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000145103	SCV005621104	benign	not specified	2024-12-06	criteria provided, single submitter	clinical testing
GeneReviews	RCV000020757	SCV000041336	not provided	Microcephaly 5, primary, autosomal recessive		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003914858	SCV004741818	likely benign	ASPM-related disorder	2019-06-12	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).