ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.2000+9G>A

gnomAD frequency: 0.00007  dbSNP: rs200802583
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872041 SCV001013791 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271654 SCV001452957 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-01-08 no assertion criteria provided clinical testing

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