ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.214C>T (p.Leu72=)

gnomAD frequency: 0.00238  dbSNP: rs149479887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001200441 SCV000518753 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000953184 SCV001099744 benign Beta-hydroxyisobutyryl-CoA deacylase deficiency 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200441 SCV001371405 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing HIBCH: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001200441 SCV005255948 likely benign not provided criteria provided, single submitter not provided

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