ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1533-4T>A (rs369986567)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547159 SCV000654937 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000604631 SCV000724164 likely benign not specified 2018-03-08 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.
Counsyl RCV000547159 SCV000796987 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000547159 SCV001288094 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000547159 SCV001365232 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1533-4T>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224317T>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
Natera, Inc. RCV000547159 SCV001459256 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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