ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1030del (p.His344fs)

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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 RCV005024373 SCV005655889 likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1 2024-05-18 criteria provided, single submitter clinical testing

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