ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter)

dbSNP: rs2080104580
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV002269252 SCV002549924 pathogenic X-linked intellectual disability, Cantagrel type 2022-07-26 criteria provided, single submitter clinical testing The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. It has occured de novo in a patient with intellectual disability. In the case of stop or nonsense variants in a gene that matches the phenotype in which loss of function changes represent a known mechanism, there is a high probability of pathogenetic relevance. The variant is currently to be regarded as a "pathogenic variant" (ACMG criteria).

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.