Submissions for variant NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)

gnomAD frequency: 0.00894  dbSNP: rs191886831

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117285	SCV000151460	benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117285	SCV000202871	benign	not specified	2015-11-23	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428252	SCV000510676	benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000117285	SCV000522786	benign	not specified	2016-01-22	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.
Athena Diagnostics	RCV000117285	SCV000613775	benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537746	SCV000649586	benign	Intellectual disability, X-linked 1	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312143	SCV000845954	benign	Inborn genetic diseases	2017-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000428252	SCV005279224	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000537746	SCV000734787	benign	Intellectual disability, X-linked 1		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000428252	SCV001800185	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000428252	SCV001932180	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000428252	SCV001969023	likely benign	not provided		no assertion criteria provided	clinical testing