ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 3

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
153 82 362 20 43 5 622

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO15A 150 82 356 20 43 5 613
LOC105371566, MYO15A 0 0 4 0 0 0 4
LOC130060418, MYO15A 2 0 1 0 0 0 3
LOC130060416, MYO15A 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 3 258 11 24 0 297
Molecular Diagnosis Center for Deafness 54 21 29 0 1 0 105
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 9 5 19 0 34
Fulgent Genetics, Fulgent Genetics 4 6 22 0 1 0 33
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 12 6 8 0 0 0 26
Genome-Nilou Lab 0 0 0 0 18 0 18
3billion 6 5 7 0 0 0 18
Revvity Omics, Revvity 4 2 10 1 0 0 17
Laboratory of Prof. Karen Avraham, Tel Aviv University 16 1 0 0 0 0 17
Baylor Genetics 0 0 13 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 10 0 0 0 0 13
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 5 6 2 0 0 0 13
OMIM 12 0 0 0 0 0 12
Division of Human Genetics, Children's Hospital of Philadelphia 4 1 5 0 0 1 11
National Institute on Deafness and Communication Disorders, National Institutes of Health 9 1 1 0 0 0 11
Center for Statistical Genetics, Columbia University 9 0 0 0 0 0 9
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 2 6 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 2 5 0 0 0 7
King Laboratory, University of Washington 3 3 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
Mendelics 2 0 2 2 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 4 0 0 0 5
Hereditary Research Laboratory, Bethlehem University 4 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 0 3
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 3 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 2 0 0 0 0 2
Hereditary Hearing Loss Research Unit, University of Madras 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Genetics Laboratory, Department of Biology, Semnan University 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 1 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 1 1 0 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 1 1 0 0 0 0 2
Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 1 0 0 0 0 1
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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