ClinVar Miner

Submissions for variant NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu)

gnomAD frequency: 0.01666  dbSNP: rs34076756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676413 SCV001724796 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676413 SCV005236716 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117701 SCV000151948 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676413 SCV000802190 likely benign not provided 2016-03-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003964985 SCV004778861 benign NDUFA9-related disorder 2019-07-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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