ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.894G>A (p.Lys298=)

gnomAD frequency: 0.00001  dbSNP: rs749598830
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200294 SCV002354019 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2022-09-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV002200294 SCV004809340 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2024-03-14 criteria provided, single submitter clinical testing

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