ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)

dbSNP: rs533097197
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000944591 SCV001090562 likely benign Multiple acyl-CoA dehydrogenase deficiency 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944591 SCV001457031 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2020-04-21 no assertion criteria provided clinical testing

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