ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.263+8G>A

gnomAD frequency: 0.00001  dbSNP: rs200867652
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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 RCV000942409 SCV001088332 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827000 SCV002092886 likely benign Mitochondrial complex I deficiency 2020-07-22 no assertion criteria provided clinical testing

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