ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)

gnomAD frequency: 0.06414  dbSNP: rs1801591
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078134 SCV000109972 benign not specified 2013-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000078134 SCV000168349 benign not specified 2012-04-24 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.
Illumina Laboratory Services, Illumina RCV000377415 SCV000393971 benign Multiple acyl-CoA 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000377415 SCV001156793 benign Multiple acyl-CoA dehydrogenase deficiency 2023-11-01 criteria provided, single submitter clinical testing
Invitae RCV000377415 SCV001720715 benign Multiple acyl-CoA dehydrogenase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000377415 SCV001750130 benign Multiple acyl-CoA dehydrogenase deficiency 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078134 SCV002050859 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676979 SCV000802806 benign not provided 2016-02-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000377415 SCV001461569 benign Multiple acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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