ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)

dbSNP: rs1057519915
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995810 SCV001150172 likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 2019-04-11 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000444639 SCV000506731 likely pathogenic Papillary renal cell carcinoma type 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424860 SCV000506732 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435587 SCV000506733 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444491 SCV000506734 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only

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