ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1605+7G>A

gnomAD frequency: 0.00003  dbSNP: rs572010910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939802 SCV001085653 benign Very long chain acyl-CoA dehydrogenase deficiency 2023-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091166 SCV001247039 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000939802 SCV001365115 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1605+7G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224400G>A] 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.
Natera, Inc. RCV000939802 SCV001455189 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-01-24 no assertion criteria provided clinical testing

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