ClinVar Miner

Variants studied for bronchiectasis

Included ClinVar conditions (11):
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
43 6 69 18 75 208

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SCNN1A 4 1 30 7 38 79
SCNN1B 7 0 20 11 33 69
CFTR 21 2 8 0 0 31
SCNN1G 2 1 5 0 0 8
LTBR, SCNN1A 0 0 1 0 4 5
BRWD1 0 1 3 0 0 4
CFTR, LOC111674475 4 0 0 0 0 4
CFTR, LOC111674472 2 0 0 0 0 2
MYO9A 0 0 2 0 0 2
CFTR, LOC113633877 1 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 1
STAT1 1 0 0 0 0 1
USP11 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 46 18 75 139
Fulgent Genetics,Fulgent Genetics 29 2 9 0 0 40
OMIM 12 0 0 0 0 12
Baylor Genetics 1 0 3 0 0 4
Research Unit of Respiratory Disease,The Second Xiangya Hospital of Central South University 0 1 3 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 2 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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