Submissions for variant NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)

gnomAD frequency: 0.01192  dbSNP: rs76637913

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152722	SCV000202109	benign	not specified	2014-05-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259599	SCV000481975	benign	Adrenoleukodystrophy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000259599	SCV000630000	benign	Adrenoleukodystrophy	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312671	SCV000846658	benign	Inborn genetic diseases	2014-11-24	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675198	SCV001472467	benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000675198	SCV001831386	benign	not provided	2018-07-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15643618, 23651979, 23300730, 12175782, 11438993)
Genome-Nilou Lab	RCV000259599	SCV002045876	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675198	SCV005274928	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675198	SCV000800840	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000259599	SCV001452887	benign	Adrenoleukodystrophy	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152722	SCV001925573	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000152722	SCV001952463	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675198	SCV002035809	likely benign	not provided		no assertion criteria provided	clinical testing