ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.*458TG[3]

dbSNP: rs146500488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001824738 SCV000429479 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384460 SCV000429480 uncertain significance Mitochondrial trifunctional protein deficiency 2016-06-14 criteria provided, single submitter clinical testing

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