Submissions for variant NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)

gnomAD frequency: 0.00001  dbSNP: rs587780285

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116461	SCV000150389	uncertain significance	not provided	2013-08-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316296	SCV000849958	benign	Inborn genetic diseases	2019-10-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083597	SCV001007561	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000116461	SCV001883903	benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001083597	SCV002087301	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2020-07-07	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542838	SCV004780714	likely benign	ATRX-related disorder	2022-05-24	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).