ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.144A>C (p.Ala48=)

gnomAD frequency: 0.00011  dbSNP: rs79881095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402351 SCV001604196 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001552038 SCV001772652 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953729 SCV004773765 likely benign HADH-related disorder 2023-02-20 no assertion criteria provided 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).

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