ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.252A>C (p.Gln84His)

dbSNP: rs2147784410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563765 SCV001786784 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563766 SCV001786785 uncertain significance Mitochondrial trifunctional protein deficiency 2021-07-14 criteria provided, single submitter clinical testing

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