ClinVar Miner

Variants with conflicting interpretations "likely benign" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "pathogenic" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
Download table as spreadsheet
HGVS dbSNP
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958

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.