ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)

gnomAD frequency: 0.00025  dbSNP: rs143873407
Minimum review status: Collection method:
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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 RCV000935736 SCV001081488 likely benign Multiple acyl-CoA dehydrogenase deficiency 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001545051 SCV001764304 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing

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