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 |
20
|
66
|
204
|
22
|
30
|
1
|
318
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MRE11
|
20
|
66
|
204
|
22
|
30
|
1
|
318
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
7
|
54
|
76
|
0 |
0 |
0 |
137
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
106
|
8
|
18
|
0 |
133
|
Revvity Omics, Revvity
|
8
|
4
|
20
|
0 |
0 |
0 |
32
|
Counsyl
|
1
|
2
|
6
|
9
|
9
|
0 |
27
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
24
|
0 |
0 |
0 |
24
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
6
|
6
|
0 |
16
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
1
|
14
|
0 |
15
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Invitae
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Mendelics
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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