ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.753-27C>T

dbSNP: rs374911841
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550616 SCV000654966 benign Very long chain acyl-CoA dehydrogenase deficiency 2023-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000603826 SCV000729665 likely benign not specified 2018-01-03 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000550616 SCV001365158 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.753-27C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7222150C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
CeGaT Center for Human Genetics Tuebingen RCV003311848 SCV004010551 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ACADVL: BS1:Supporting
Natera, Inc. RCV000550616 SCV001453214 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-05-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935524 SCV004750177 likely benign ACADVL-related disorder 2020-09-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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