ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely benign" from Invitae

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464

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.