ClinVar Miner

Submissions for variant NM_014049.4(ACAD9):c.976G>A (rs115532916)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123467 SCV000166804 benign not specified 2012-07-20 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 Clinical Services Laboratory,Illumina RCV000395019 SCV000440761 likely benign Acyl-CoA dehydrogenase family, member 9, deficiency of 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000123467 SCV000602348 benign not specified 2016-05-02 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000395019 SCV000803452 uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of 2018-05-31 criteria provided, single submitter curation This variant is interpreted as of Uncertain Significance - Conflicting Evidence, for Mitochondrial complex I deficiency due to ACAD9 deficiency, autosomal recessive. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676686 SCV000802482 benign not provided 2017-10-31 no assertion criteria provided clinical testing

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