ClinVar Miner

Variants studied for Pendred syndrome

Included ClinVar conditions (3):
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
110 155 279 59 29 9 530

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A4 99 142 220 46 25 8 438
KCNJ10 2 2 35 6 0 0 45
LOC123956210, SLC26A4 8 10 11 5 4 1 30
FOXI1 1 0 10 2 0 0 13
CLDN9 0 0 1 0 0 0 1
DIAPH1 0 1 0 0 0 0 1
MYO7A 0 0 1 0 0 0 1
OTOF 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 15 93 79 13 0 0 200
Natera, Inc. 54 8 50 19 19 0 150
Genome-Nilou Lab 41 36 44 17 0 0 138
Illumina Laboratory Services, Illumina 1 0 112 9 9 0 131
Fulgent Genetics, Fulgent Genetics 26 13 52 14 3 0 108
Myriad Genetics, Inc. 12 24 10 0 0 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 10 0 0 0 0 44
ClinGen Hearing Loss Variant Curation Expert Panel 6 8 4 3 5 0 26
OMIM 20 0 0 0 0 0 20
Baylor Genetics 8 4 2 0 0 0 14
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 5 3 4 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 0 0 0 0 0 9
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 3 3 3 0 0 0 9
GeneReviews 0 0 0 0 0 8 8
The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 6 0 0 0 1 0 7
Mendelics 1 2 0 1 2 0 6
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
NxGen MDx 0 1 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1

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