ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.360C>T (p.Asn120=)

gnomAD frequency: 0.01346  dbSNP: rs76543640
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176962 SCV000228754 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000176962 SCV000238599 benign not specified 2014-11-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000176962 SCV000301510 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266722 SCV000376676 benign Deficiency of butyryl-CoA dehydrogenase 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000266722 SCV001158825 benign Deficiency of butyryl-CoA dehydrogenase 2023-11-03 criteria provided, single submitter clinical testing
Invitae RCV000266722 SCV001732535 benign Deficiency of butyryl-CoA dehydrogenase 2024-01-31 criteria provided, single submitter 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.