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 |
37
|
116
|
287
|
1
|
0 |
1
|
422
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
Baylor Genetics
|
19
|
77
|
242
|
0 |
0 |
337
|
Fulgent Genetics, Fulgent Genetics
|
6
|
12
|
51
|
1
|
0 |
70
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
4
|
3
|
6
|
0 |
0 |
13
|
MGZ Medical Genetics Center
|
3
|
8
|
1
|
0 |
0 |
12
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
4
|
3
|
0 |
0 |
10
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
3
|
3
|
0 |
0 |
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
Clinical Genomics Laboratory, Stanford Medicine
|
1
|
0 |
4
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
1
|
0 |
0 |
4
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
2
|
0 |
2
|
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
1
|
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
3
|
0 |
0 |
0 |
4
|
Illumina Laboratory Services, Illumina
|
1
|
2
|
0 |
0 |
0 |
3
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
2
|
0 |
0 |
0 |
3
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
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