ClinVar Miner

Submissions for variant NM_002488.4(NDUFA2):c.134A>C (p.Lys45Thr) (rs757982865)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MyeliNeuroGene Lab,McGill University Health Center Research Institute RCV000516026 SCV000584198 pathogenic Cystic Leukoencephalopathy criteria provided, single submitter research This is the first report of autosomal recessive mutations in NDUFA2 associated with cystic leukoencephalopathy.

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