ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1532+11G>A

gnomAD frequency: 0.00003  dbSNP: rs372900326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671368 SCV000796337 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000671368 SCV002478772 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000671368 SCV003800345 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2022-11-03 criteria provided, single submitter clinical testing

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