ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys)

gnomAD frequency: 0.00001  dbSNP: rs778983997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197182 SCV001367818 uncertain significance Combined oxidative phosphorylation defect type 23 2019-12-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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