ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) (rs372047256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303945 SCV000373648 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342474 SCV000373649 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196497 SCV001367105 uncertain significance Congenital cerebellar hypoplasia; Cerebellar ataxia; Intellectual disability, mild; Cerebellar vermis hypoplasia; Truncal ataxia; Periventricular gray matter heterotopia; Dysgraphia 2019-03-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in heterozygous state.

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