Submissions for variant NM_000033.4(ABCD1):c.696G>T (p.Ala232=)

gnomAD frequency: 0.00357  dbSNP: rs147595334

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000347550	SCV000481965	likely benign	Adrenoleukodystrophy	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc	RCV000517474	SCV000612234	benign	not specified	2016-12-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314112	SCV000848733	benign	Inborn genetic diseases	2015-11-12	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	RCV000347550	SCV001015990	benign	Adrenoleukodystrophy	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001706618	SCV001863323	benign	not provided	2021-04-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000347550	SCV002045857	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing