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 |
15
|
6
|
40
|
12
|
13
|
85
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
37
|
12
|
13
|
62
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
3
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
1
|
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
1
|
Medical Molecular Genetics Department, National Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Magee Womens Research Institute, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
1
|
Pediatric Endocrinology Clinic, Ege University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
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