ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)

dbSNP: rs1135401818
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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496160 SCV000586789 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2017-01-06 criteria provided, single submitter clinical testing ASD with Intellectual disability

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.