Submissions for variant NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)

gnomAD frequency: 0.00041  dbSNP: rs61752456

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000202782	SCV000202214	likely benign	not specified	2015-10-28	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202782	SCV000257697	likely benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000202782	SCV000593550	likely benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Invitae	RCV000640853	SCV000762454	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001706009	SCV001870635	benign	not provided	2019-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426727	SCV002731369	benign	Inborn genetic diseases	2018-04-24	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.
Fulgent Genetics, Fulgent Genetics	RCV002505160	SCV002809577	likely benign	Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1	2022-03-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706009	SCV004165895	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ATRX: BS2
PreventionGenetics, part of Exact Sciences	RCV004544390	SCV004770696	likely benign	ATRX-related disorder	2021-03-05	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).