ClinVar Miner

Submissions for variant NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) (rs587777894)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
James Howe Lab,University of Iowa Hospital and Clinics RCV000190281 SCV000191089 not provided not provided no assertion provided not provided
Database of Curated Mutations (DoCM) RCV000436863 SCV000506739 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419624 SCV000506740 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430308 SCV000506741 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439373 SCV000506742 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422164 SCV000506743 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429373 SCV000506744 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440054 SCV000506745 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
OMIM RCV000477713 SCV000564176 pathogenic Focal cortical dysplasia type II 2020-09-16 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.