ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.1621-7T>C

gnomAD frequency: 0.00001  dbSNP: rs774272303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927813 SCV001073410 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271658 SCV001452961 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-01-17 no assertion criteria provided clinical testing

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