ClinVar Miner

Variants studied for X-linked mixed deafness with perilymphatic gusher

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
33 2 4 0 0 1 39

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
GJB2 15 2 3 0 20
POU3F4 17 0 0 1 17
GJB6 1 0 1 0 2

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance not provided total
Fulgent Genetics 16 2 4 0 22
OMIM 11 0 0 0 11
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
Hearing and Balance Clinic,First Affliiated Hospital of Kunming Medical University 1 0 0 0 1
Laboratory of Molecular Genetics,Yakut Science Centre of Complex Medical Problems 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 1

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.