Submissions for variant NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)

gnomAD frequency: 0.00006  dbSNP: rs149249195

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726862	SCV000518179	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726862	SCV000703682	uncertain significance	not provided	2016-12-20	criteria provided, single submitter	clinical testing
Invitae	RCV001084389	SCV001005909	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392969	SCV002702487	likely benign	Inborn genetic diseases	2017-07-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000726862	SCV004165897	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ATRX: BS2
Natera, Inc.	RCV001084389	SCV002089014	likely benign	Alpha thalassemia-X-linked intellectual disability syndrome	2020-02-11	no assertion criteria provided	clinical testing