Submissions for variant NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)

dbSNP: rs79383557

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203152	SCV000257602	likely benign	not specified	2015-02-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311312	SCV000846882	benign	Inborn genetic diseases	2016-06-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV000608121	SCV001733190	benign	Adrenoleukodystrophy	2024-01-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608121	SCV002045873	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967540	SCV004792651	likely benign	ABCD1-related condition	2022-12-15	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).