ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.864C>T (p.Phe288=)

gnomAD frequency: 0.00001  dbSNP: rs753748672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001387 SCV000654972 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000828129 SCV000969809 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30194637)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001387 SCV001158590 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2018-08-09 criteria provided, single submitter clinical testing

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