ClinVar Miner

Variants studied for Pendred syndrome

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 not provided total
107 153 240 49 29 8 477

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 98 142 215 43 25 7 430
LOC123956210, SLC26A4 8 10 11 5 4 1 30
KCNJ10 0 0 10 1 0 0 11
FOXI1 1 0 1 0 0 0 2
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: 37
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 36 14 0 0 0 0 50
Myriad Genetics, Inc. 12 24 10 0 0 0 46
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
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
MGZ Medical Genetics Center 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
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 Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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