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 total
56 106 264 30 19 439

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A4 55 106 182 24 15 346
KCNJ10 0 0 59 2 2 63
FOXI1 1 0 23 4 2 30

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 26 97 87 13 0 223
Illumina Clinical Services Laboratory,Illumina 1 0 179 14 13 207
OMIM 21 0 0 0 0 21
Fulgent Genetics,Fulgent Genetics 10 3 6 1 0 20
ClinGen Hearing Loss Variant Curation Expert Panel 4 5 4 2 4 19
Myriad Women's Health, Inc. 10 3 0 0 0 13
Baylor Genetics 8 3 0 0 0 11
Hereditary Research Laboratory,Bethlehem University 6 0 0 0 0 6
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
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 1
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
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
NxGen MDx 0 1 0 0 0 1

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