ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=)

gnomAD frequency: 0.00011  dbSNP: rs201860210
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 RCV000903055 SCV001047506 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276987 SCV001463717 likely benign Mitochondrial complex I deficiency 2020-06-14 no assertion criteria provided clinical testing

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