ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)

dbSNP: rs1553311633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670342 SCV000795182 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2017-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493107 SCV002792491 uncertain significance Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2022-03-07 criteria provided, single submitter clinical testing

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