ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.426G>A (p.Lys142=)

gnomAD frequency: 0.00004  dbSNP: rs565131848
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 RCV000944534 SCV001090505 likely benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944534 SCV001461459 likely benign Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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