ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades: Collection method of the submission from Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter) rs1561847309

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.