ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val)

gnomAD frequency: 0.00002  dbSNP: rs200756131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University RCV001249209 SCV001422463 likely pathogenic Leigh syndrome 2019-12-01 criteria provided, single submitter clinical testing

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