ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter)

dbSNP: rs1057518991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526556 SCV001736981 likely pathogenic Global developmental delay criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437160 SCV004154711 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing ADNP: PVS1:Strong, PM2, PM6, PS4:Moderate
Laboratory of Molecular Genetics, CHU RENNES RCV000414834 SCV000493083 likely pathogenic Autism, severe; intellectual deficiency 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.