ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1935G>A (p.Arg645=)

gnomAD frequency: 0.00007  dbSNP: rs762246988
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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 RCV000941764 SCV001087661 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278704 SCV001465736 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-10-06 no assertion criteria provided clinical testing

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