ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.921G>A (p.Arg307=)

gnomAD frequency: 0.00869  dbSNP: rs79677613
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249176 SCV000309957 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284955 SCV000406799 likely benign Acyl-CoA oxidase deficiency 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000284955 SCV001100145 benign Acyl-CoA oxidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000676135 SCV001817444 likely benign not provided 2019-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676135 SCV004144280 benign not provided 2024-06-01 criteria provided, single submitter clinical testing ACOX1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676135 SCV005214126 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676135 SCV000801880 likely benign not provided 2017-01-04 no assertion criteria provided clinical testing
Natera, Inc. RCV000284955 SCV001463636 benign Acyl-CoA oxidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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