ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.574-4dup

dbSNP: rs763636903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670251 SCV000795082 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060820 SCV002423080 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-11-26 criteria provided, single submitter clinical testing

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