ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)

dbSNP: rs142120825
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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 RCV001494827 SCV001699492 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832132 SCV002076487 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-09-21 no assertion criteria provided clinical testing

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