ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)

dbSNP: rs587777900
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001260512 SCV001437533 pathogenic CEBALID syndrome 2020-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf RCV003444060 SCV004171161 pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV000190287 SCV005042311 pathogenic not provided 2024-04-01 criteria provided, single submitter clinical testing MTOR: PS2, PM2, PS4:Moderate, PP2, PP3
James Howe Lab, University of Iowa Hospital and Clinics RCV000190287 SCV000191095 not provided not provided no assertion provided not provided
Database of Curated Mutations (DoCM) RCV000429790 SCV000505141 likely pathogenic Transitional cell carcinoma of the bladder 2014-12-26 no assertion criteria provided literature only

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