ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)

gnomAD frequency: 0.00001  dbSNP: rs371910495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996472 SCV001151186 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing ACADVL: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001398811 SCV001600586 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-22 criteria provided, single submitter clinical testing

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