ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.810G>A (p.Ala270=)

gnomAD frequency: 0.00010  dbSNP: rs376632479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872628 SCV001014477 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736932 SCV004562746 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948190 SCV004756886 likely benign HADHA-related condition 2020-03-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001271663 SCV001452966 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-03-11 no assertion criteria provided clinical testing

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