ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)

gnomAD frequency: 0.67086  dbSNP: rs11559290
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081080 SCV000112988 benign not specified 2013-07-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355141 SCV000448154 benign Multiple acyl-CoA dehydrogenase 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.
Mendelics RCV000355141 SCV001136785 benign Multiple acyl-CoA dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000355141 SCV001721561 benign Multiple acyl-CoA dehydrogenase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000355141 SCV001738591 benign Multiple acyl-CoA dehydrogenase deficiency 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000676844 SCV001873103 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000355141 SCV001876178 benign Multiple acyl-CoA dehydrogenase deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676844 SCV005303849 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676844 SCV000802655 benign not provided 2016-02-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081080 SCV001740902 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081080 SCV001951219 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001826769 SCV002084838 benign Glutaric acidemia type 2C 2019-11-18 no assertion criteria provided clinical testing

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