ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val)

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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 RCV001196771 SCV001367404 uncertain significance Congenital cerebellar hypoplasia; Atrial septal defect; Abnormality of the kidney; Ectopic kidney; Renal duplication; Axial malrotation of the kidney; Abnormal localization of kidney; Ventricular septal defect 2018-10-17 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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