ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)

gnomAD frequency: 0.00004  dbSNP: rs572478240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945239 SCV001091229 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492190 SCV004236817 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 16 2023-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827034 SCV002090910 likely benign Mitochondrial complex I deficiency 2021-10-06 no assertion criteria provided clinical testing

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