ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.3712G>A (p.Val1238Ile) (rs121913670)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221989 SCV000277639 pathogenic Hereditary cancer-predisposing syndrome 2016-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s)
OMIM RCV000014897 SCV000035152 pathogenic Renal cell carcinoma, papillary, 1 1997-05-01 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.