ClinVar Miner

Variants studied for congenital bilateral aplasia of vas deferens from CFTR mutation

Included ClinVar conditions (4):
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
183 64 117 5 3 3 363

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
CFTR 139 49 100 4 3 3 288
CFTR, LOC111674472 19 10 7 0 0 0 35
CFTR, LOC111674475 9 0 7 0 0 0 16
ADGRG2 9 0 0 0 0 0 9
CFTR, LOC111674477 3 3 1 0 0 0 6
CFTR, LOC113664106 3 1 1 0 0 0 5
CFTR, LOC111674463 0 1 0 1 0 0 2
CFTR, LOC113633877 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 141 43 2 0 0 0 185
Fulgent Genetics, Fulgent Genetics 71 6 81 4 3 0 165
Genome-Nilou Lab 2 5 23 1 0 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 6 5 8 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 7 0 0 0 0 13
Biology Pathology Center, Lille University Hospital 9 0 0 0 0 0 9
MGZ Medical Genetics Center 3 2 3 0 0 0 8
OMIM 4 0 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
3billion 1 0 1 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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