ClinVar Miner

Variants from Biology Pathology Center, Lille University Hospital

Location: France  Primary collection method: clinical testing
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
29 3 0 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic total
ADGRG2 9 0 9
DNAH5 5 2 7
DNAH11 5 0 5
CCDC39 3 0 3
CFAP298, CFAP298-TCP10L 2 0 2
DNAH1 1 1 2
DNAAF4, DNAAF4-CCPG1 1 0 1
HYDIN 1 0 1
ODAD2 1 0 1
ODAD4 1 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic total
Congenital bilateral aplasia of vas deferens from CFTR mutation 9 0 9
Primary ciliary dyskinesia 3 5 2 7
Primary ciliary dyskinesia 7 5 0 5
Primary ciliary dyskinesia 14 3 0 3
Primary ciliary dyskinesia 26 2 0 2
Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 1 1 2
Primary ciliary dyskinesia 23 1 0 1
Primary ciliary dyskinesia 25 1 0 1
Primary ciliary dyskinesia 35 1 0 1
Primary ciliary dyskinesia 5 1 0 1

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