ClinVar Miner

Submissions for variant NM_014049.5(ACAD9):c.1279-7A>G

gnomAD frequency: 0.43618  dbSNP: rs1683787
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152730 SCV000202117 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361183 SCV000440766 benign Acyl-CoA dehydrogenase 9 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000676688 SCV001731459 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361183 SCV001762677 benign Acyl-CoA dehydrogenase 9 deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000676688 SCV001896556 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975194 SCV004799386 benign ACAD9-related condition 2020-04-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic RCV000676688 SCV000802484 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Natera, Inc. RCV000361183 SCV002081442 benign Acyl-CoA dehydrogenase 9 deficiency 2019-11-19 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.