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 total
68 111 216 35 24 398

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
SLC26A4 67 110 202 34 24 381
KCNJ10 0 0 10 1 0 11
FOXI1 1 0 1 0 0 2
CLDN9 0 0 1 0 0 1
DIAPH1 0 1 0 0 0 1
MYO7A 0 0 1 0 0 1
OTOF 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 16 94 87 13 0 210
Illumina Clinical Services Laboratory,Illumina 1 0 112 9 9 131
Natera, Inc. 29 2 25 10 12 78
ClinGen Hearing Loss Variant Curation Expert Panel 5 7 4 3 5 24
OMIM 21 0 0 0 0 21
Baylor Genetics 9 3 2 0 0 14
Myriad Women's Health, Inc. 10 3 0 0 0 13
Nilou-Genome Lab 0 1 6 2 0 9
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 3 3 3 0 0 9
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 7
Hereditary Research Laboratory, Bethlehem University 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 5
GeneReviews 4 0 0 0 0 4
Mendelics 0 0 0 1 2 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
NxGen MDx 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center 0 0 1 0 0 1
Pars Genome Lab 0 0 0 1 0 1

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