ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.351A>C (p.Thr117=) (rs74090726)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077887 SCV000109716 benign not specified 2013-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000077887 SCV000166813 benign not specified 2013-05-29 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211524 SCV000268465 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077887 SCV000301496 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000211524 SCV000358937 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-03-06 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 RCV000211524 SCV000630282 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000211524 SCV000797296 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-01-19 criteria provided, single submitter clinical testing
OMIM RCV000003783 SCV000023948 risk factor MCAD deficiency, modifier of 2007-03-01 no assertion criteria provided literature only

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