ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.864A>G (p.Glu288=)

gnomAD frequency: 0.00020  dbSNP: rs372425837
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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 RCV001483455 SCV001687847 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832224 SCV002076520 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-05-26 no assertion criteria provided clinical testing

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