ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)

gnomAD frequency: 0.00001  dbSNP: rs200549951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794804 SCV000934234 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825553 SCV002076526 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-01-22 no assertion criteria provided clinical testing

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