Submissions for variant NM_000033.4(ABCD1):c.707G>A (p.Arg236His)

gnomAD frequency: 0.00114  dbSNP: rs201455322

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173052	SCV000224132	uncertain significance	not provided	2014-09-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000395710	SCV000481966	likely benign	Adrenoleukodystrophy	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mayo Clinic Laboratories, Mayo Clinic	RCV000395710	SCV000782463	uncertain significance	Adrenoleukodystrophy	2016-06-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313018	SCV000847817	benign	Inborn genetic diseases	2016-10-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000395710	SCV001015677	benign	Adrenoleukodystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000395710	SCV001142049	likely benign	Adrenoleukodystrophy	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000173052	SCV001945099	benign	not provided	2020-05-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12175782, 23430809, 33151932)
Genome-Nilou Lab	RCV000395710	SCV002045747	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000173052	SCV004167128	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ABCD1: BS1, BS2
Natera, Inc.	RCV000395710	SCV001452881	benign	Adrenoleukodystrophy	2020-09-16	no assertion criteria provided	clinical testing