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 |
6
|
12
|
119
|
34
|
33
|
203
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
1
|
100
|
34
|
24
|
159
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
16
|
16
|
Baylor Genetics
|
1
|
2
|
2
|
0 |
0 |
5
|
3billion
|
1
|
1
|
2
|
0 |
0 |
4
|
MGZ Medical Genetics Center
|
0 |
0 |
3
|
0 |
0 |
3
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
2
|
0 |
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
2
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
0 |
1
|
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
1
|
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