ClinVar Miner

Variants studied for autosomal recessive nonsyndromic hearing loss 1A

Included ClinVar conditions (9):
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
103 108 171 55 29 15 382

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GJB2 96 107 118 27 20 15 285
GJB6 3 0 45 25 9 0 81
GJB3 2 0 4 3 0 0 9
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 1
CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 1
CRYL1, GJB2, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, MIR4499 1 0 0 0 0 0 1
CRYL1, GJB6 0 0 1 0 0 0 1
ERCC8 0 1 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 1
GJB4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 49 31 21 10 4 0 114
Counsyl 14 53 44 1 0 0 112
Natera, Inc. 48 6 31 10 8 0 103
Labcorp Genetics (formerly Invitae), Labcorp 3 0 46 24 8 0 81
Illumina Laboratory Services, Illumina 9 3 31 15 12 0 70
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 12 0 0 3 0 60
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 23 4 13 2 5 0 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 3 11 0 1 0 42
OMIM 24 0 0 0 0 0 24
Myriad Genetics, Inc. 15 1 6 0 0 0 22
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 16 4 1 0 0 0 21
Baylor Genetics 15 2 4 0 0 0 20
GeneReviews 4 0 0 0 0 14 18
Juno Genomics, Hangzhou Juno Genomics, Inc 12 2 3 0 0 0 17
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 10 3 0 0 0 0 13
Institute of Rare Diseases, West China Hospital, Sichuan University 5 5 0 0 0 0 10
MGZ Medical Genetics Center 9 0 0 0 0 0 9
Knight Diagnostic Laboratories, Oregon Health and Sciences University 7 2 0 0 0 0 9
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 1 0 0 0 0 9
Mendelics 3 0 1 0 4 0 8
Genome-Nilou Lab 4 1 3 0 0 0 8
Pars Genome Lab 0 1 0 2 4 0 7
3billion, Medical Genetics 7 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 3 0 0 0 5
Division of Human Genetics, Children's Hospital of Philadelphia 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 2 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 2 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2 0 0 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 2 0 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon 0 0 1 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 1
Wonkam Laboratory, Johns Hopkins University 1 0 0 0 0 0 1

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