ClinVar Miner

Submissions for variant NM_005327.7(HADH):c.774A>G (p.Pro258=)

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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 RCV003855087 SCV004662420 likely benign Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2023-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004585070 SCV005075454 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing HADH: BP4, BP7

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