ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Neurogenetics Laboratory - MEYER, AOU Meyer and "pathogenic" from any submitter

Minimum review status of the submission from Neurogenetics Laboratory - MEYER, AOU Meyer: Collection method of the submission from Neurogenetics Laboratory - MEYER, AOU Meyer:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val) rs796053130
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235

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.