ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=)

gnomAD frequency: 0.00003  dbSNP: rs767277509
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 RCV000932852 SCV001078540 likely benign not provided 2025-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276994 SCV001463724 likely benign Mitochondrial complex I deficiency 2020-04-30 no assertion criteria provided clinical testing

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