Submissions for variant NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)

gnomAD frequency: 0.00058  dbSNP: rs140263823

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180096	SCV000232465	uncertain significance	not provided	2014-07-08	criteria provided, single submitter	clinical testing
Invitae	RCV001085784	SCV001018532	benign	Adrenoleukodystrophy	2024-01-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001085784	SCV002045773	likely benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408781	SCV002713080	likely benign	Inborn genetic diseases	2019-11-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003895205	SCV004717832	likely benign	ABCD1-related condition	2022-11-21	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).
Natera, Inc.	RCV001085784	SCV002084652	likely benign	Adrenoleukodystrophy	2020-12-01	no assertion criteria provided	clinical testing