Submissions for variant NM_000489.6(ATRX):c.4120+4A>C

gnomAD frequency: 0.00046  dbSNP: rs200420513

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724115	SCV000225522	uncertain significance	not provided	2014-10-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194168	SCV000246758	likely benign	not specified	2015-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV001084811	SCV000762447	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000724115	SCV001826903	likely benign	not provided	2019-03-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321688	SCV002632674	benign	Inborn genetic diseases	2017-10-11	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724115	SCV001978018	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724115	SCV001980431	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001084811	SCV002087282	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2020-03-04	no assertion criteria provided	clinical testing