Submissions for variant NM_000489.6(ATRX):c.5787-24GTTT[4]

dbSNP: rs782072699

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192501	SCV000246762	likely benign	not specified	2015-09-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001701554	SCV000565769	likely benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing
Invitae	RCV000535904	SCV000639898	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354540	SCV002652155	benign	Inborn genetic diseases	2023-03-06	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	RCV001701554	SCV001932218	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701554	SCV001974130	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000535904	SCV002087264	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2019-10-24	no assertion criteria provided	clinical testing