ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.819C>T (p.Ile273=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003091995 SCV003482357 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973666 SCV004792881 likely benign HADH-related disorder 2024-02-15 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).

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