ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 1A

Included ClinVar conditions (8):
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 total
80 68 105 22 23 246

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB2 74 68 94 19 20 223
GJB6 3 0 7 3 3 16
GJB3 1 0 2 0 0 3
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, MIR4499, XPO4 0 0 1 0 0 1
CRYL1, GJB2, MIR4499 1 0 0 0 0 1
GJB2, GJB6 1 0 0 0 0 1
GJB4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 14 53 45 1 0 113
Illumina Clinical Services Laboratory,Illumina 8 3 33 15 12 71
Natera, Inc. 33 2 13 3 7 58
Integrated Genetics/Laboratory Corporation of America 39 6 0 0 3 48
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 23 4 13 2 5 47
OMIM 24 0 0 0 0 24
Fulgent Genetics,Fulgent Genetics 16 2 5 0 0 23
Baylor Genetics 15 2 3 0 0 20
GeneReviews 18 0 0 0 0 18
Invitae 3 0 7 3 3 16
Myriad Women's Health, Inc. 15 1 0 0 0 16
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 10 3 0 0 0 13
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 9 0 1 0 0 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 7 2 0 0 0 9
Mendelics 3 0 1 0 4 8
Division of Human Genetics,Children's Hospital of Philadelphia 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 0 2 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 0 0 1 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 1

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