ClinVar Miner

Variants studied for congenital bilateral absence of vas deferens

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
39 9 8 0 0 56

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CFTR 27 8 8 43
CFTR, LOC111674472 3 1 0 4
CFTR, LOC111674475 4 0 0 4
ADGRG2 3 0 0 3
CFTR, LOC113633877 1 0 0 1
CFTR, LOC113664106 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 29 2 8 39
Integrated Genetics/Laboratory Corporation of America 3 5 0 8
OMIM 7 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 0 4
Biology Pathology Center,Lille University Hospital 3 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 1

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