ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.267C>T (p.Gly89=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002654579 SCV003520712 likely benign Deficiency of butyryl-CoA dehydrogenase 2023-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546767 SCV005042184 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ACADS: BP4, BP7

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