ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.468+62C>T

gnomAD frequency: 0.00013  dbSNP: rs875989870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211518 SCV000268485 benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000211518 SCV002092830 likely benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-17 no assertion criteria provided clinical testing

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