ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1036C>T (p.Gln346Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005024372 SCV005655888 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 2024-03-19 criteria provided, single submitter clinical testing

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