ClinVar Miner

Submissions for variant NM_005327.5(HADH):c.291G>T (p.Leu97=) (rs552317372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000405760 SCV000446838 uncertain significance Deficiency of 3-hydroxyacyl-CoA dehydrogenase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310617 SCV000446839 uncertain significance Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859760 SCV000760399 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing

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