Submissions for variant NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)

gnomAD frequency: 0.00023  dbSNP: rs148659669

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176918	SCV000228695	likely benign	not specified	2015-05-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000176918	SCV000593547	likely benign	not specified	2016-01-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000537397	SCV000639901	benign	Alpha thalassemia-X-linked intellectual disability syndrome	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001709511	SCV001937349	benign	not provided	2021-04-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362902	SCV002658540	benign	Inborn genetic diseases	2017-09-29	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.
PreventionGenetics, part of Exact Sciences	RCV004537418	SCV004742438	likely benign	ATRX-related disorder	2019-09-26	no assertion criteria provided	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).