ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.1194+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143605 SCV003832786 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003143605 SCV004217455 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-09-13 criteria provided, single submitter clinical testing

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