Submissions for variant NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)

gnomAD frequency: 0.00006  dbSNP: rs61752457

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000120183	SCV000232971	likely benign	not specified	2014-10-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120183	SCV000246755	benign	not specified	2016-05-05	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000120183	SCV000257696	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
Invitae	RCV001081886	SCV000639866	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000524644	SCV001143148	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000524644	SCV001944577	benign	not provided	2018-10-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415607	SCV002721676	benign	Inborn genetic diseases	2017-09-25	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.
ITMI	RCV000120183	SCV000084327	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV001081886	SCV001452625	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2020-09-16	no assertion criteria provided	clinical testing