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
73 115 207 24 6 393

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
SLC26A4 72 115 125 18 2 300
KCNJ10 0 0 56 2 2 60
FOXI1 1 0 23 4 2 30
KCNJ10, KCNJ9 0 0 3 0 0 3

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 21 99 86 13 0 219
Illumina Clinical Services Laboratory,Illumina 1 0 119 10 4 134
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 43 20 0 0 0 63
OMIM 21 0 0 0 0 21
Fulgent Genetics 10 3 6 1 0 20
ClinGen Hearing Loss Variant Curation Expert Panel, 4 2 1 0 2 9
Hereditary Research Laboratory,Bethlehem University 6 0 0 0 0 6
GeneReviews 4 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 3
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
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

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