Submissions for variant NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)

gnomAD frequency: 0.00031  dbSNP: rs782357394

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720033	SCV000517358	likely benign	not provided	2021-03-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000437552	SCV000595260	likely benign	not specified	2016-08-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000624706	SCV000741191	benign	Inborn genetic diseases	2019-01-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000926337	SCV001071897	benign	Intellectual disability, X-linked 1	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001720033	SCV004166432	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	IQSEC2: PP2, BS2
PreventionGenetics, part of Exact Sciences	RCV003959889	SCV004769944	likely benign	IQSEC2-related disorder	2019-07-15	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).