ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)

dbSNP: rs2132705299
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001507258 SCV002102426 uncertain significance Intellectual disability, autosomal recessive 13 2022-02-03 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PS4_SUP, PM2_SUP, PM3_SUP, PP3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001507258 SCV001481953 likely pathogenic Intellectual disability, autosomal recessive 13 2020-01-01 no assertion criteria provided clinical testing

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.