ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.48C>T (p.Ser16=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003621478 SCV004462633 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-05-05 criteria provided, single submitter clinical testing

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