ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 18B

Included ClinVar conditions (1):
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
19 14 47 4 11 1 94

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OTOG 19 14 47 4 11 1 94

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Revvity Omics, Revvity 6 4 9 0 0 0 19
Fulgent Genetics, Fulgent Genetics 0 2 10 4 1 0 17
Baylor Genetics 0 0 16 0 0 0 16
Genome-Nilou Lab 0 0 0 0 10 0 10
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 7 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 3 0 0 0 6
King Laboratory, University of Washington 3 2 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
3billion 1 1 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 1 0 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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