ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)

gnomAD frequency: 0.00406  dbSNP: rs148341631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000880706 SCV000512434 benign not provided 2018-08-02 criteria provided, single submitter clinical testing
Invitae RCV000880706 SCV001023825 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488872 SCV002798674 likely benign Mitochondrial complex 1 deficiency, nuclear type 16 2022-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828400 SCV002090911 likely benign Mitochondrial complex I deficiency 2019-12-05 no assertion criteria provided clinical testing

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