ClinVar Miner

Variants studied for Deafness, autosomal recessive 1A

Coded as:
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
63 69 53 3 7 164

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 total
GJB2 60 69 53 3 7 161
CRYL1, GJB2, MIR4499 1 0 0 0 0 1
GJB2, GJB6 1 0 0 0 0 1
GJB3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 21 58 44 1 0 124
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 23 4 13 2 5 47
Integrated Genetics/Laboratory Corporation of America 34 5 0 0 3 42
OMIM 23 0 1 0 0 24
GeneReviews 18 0 0 0 0 18
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 10 3 0 0 0 13
Illumina Clinical Services Laboratory,Illumina 8 3 1 0 0 12
Knight Diagnostic Laboratories,Oregon Health and Sciences University 4 2 0 0 0 6
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 4 0 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 4
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
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 2 0 0 0 0 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Laboratory of Human Molecular Genetics,Institute of Cytology and Genetics 0 1 0 0 0 1

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