Submissions for variant NM_000033.4(ABCD1):c.-59C>T

gnomAD frequency: 0.09150  dbSNP: rs4148030

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000286561	SCV000481961	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001354444	SCV001896781	benign	not provided	2018-06-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000286561	SCV002045851	benign	Adrenoleukodystrophy	2021-11-07	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354444	SCV001549061	likely benign	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 9.43% in ONEKG) based on the frequency threshold of 0.772% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 1 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation. A synonymous variant not located in a splice region.