Submissions for variant NM_004035.7(ACOX1):c.1320T>C (p.Asp440=)

gnomAD frequency: 0.06791  dbSNP: rs8065946

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252233	SCV000309955	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373680	SCV000406795	benign	Acyl-CoA oxidase deficiency	2018-01-12	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	RCV000373680	SCV000640334	benign	Acyl-CoA oxidase deficiency	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000676132	SCV001941797	benign	not provided	2018-09-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676132	SCV005252372	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676132	SCV000801877	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000373680	SCV001463633	benign	Acyl-CoA oxidase deficiency	2020-09-16	no assertion criteria provided	clinical testing