ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1389A>G (p.Glu463=)

gnomAD frequency: 0.00001  dbSNP: rs772078762
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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 RCV000899431 SCV001043697 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271660 SCV001452963 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-05-02 no assertion criteria provided clinical testing

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