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 |
45
|
5
|
313
|
55
|
135
|
546
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Clinical Services Laboratory,Illumina
|
0 |
0 |
305
|
54
|
121
|
479
|
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand
|
30
|
2
|
6
|
0 |
0 |
38
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
0 |
0 |
0 |
2
|
33
|
35
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
Genome Diagnostics Laboratory,University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
8
|
8
|
Mendelics
|
0 |
0 |
0 |
0 |
6
|
6
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
3
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
2
|
1
|
0 |
0 |
0 |
3
|
Genetic Services Laboratory,University of Chicago
|
2
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
2
|
Centre for Genomic and Experimental Medicine,University of Edinburgh
|
2
|
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Ege University Pediatric Genetics,Ege University
|
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics,Necip Fazıl Sehir Hastanesi
|
1
|
0 |
0 |
0 |
0 |
1
|
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