Submissions for variant NM_000489.6(ATRX):c.288A>G (p.Lys96=)

gnomAD frequency: 0.01139  dbSNP: rs45574238

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078960	SCV000110825	benign	not specified	2014-02-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078960	SCV000150397	benign	not specified	2013-06-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551589	SCV000639879	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311562	SCV000846808	benign	Inborn genetic diseases	2016-04-08	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.
GeneDx	RCV001535388	SCV001752402	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001535388	SCV005274735	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000551589	SCV001452632	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2020-09-16	no assertion criteria provided	clinical testing