Submissions for variant NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)

gnomAD frequency: 0.00137  dbSNP: rs61758732

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001529732	SCV000521482	benign	not provided	2019-01-24	criteria provided, single submitter	clinical testing
Invitae	RCV000467336	SCV000561551	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000120187	SCV000612474	benign	not specified	2017-07-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313931	SCV000848115	benign	Inborn genetic diseases	2016-11-22	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.
PreventionGenetics, part of Exact Sciences	RCV004542871	SCV004772815	likely benign	ATRX-related disorder	2019-04-04	criteria provided, single submitter	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).
ITMI	RCV000120187	SCV000084333	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529732	SCV001743697	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529732	SCV001971410	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529732	SCV002037004	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000467336	SCV002087297	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2019-12-12	no assertion criteria provided	clinical testing