ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1078-23G>A

gnomAD frequency: 0.00001  dbSNP: rs372299655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285052 SCV001471378 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-04-04 criteria provided, single submitter clinical testing

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