ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1971G>A (p.Ala657=)

dbSNP: rs570854524
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000975693 SCV001123582 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274352 SCV001458395 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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