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 |
|
26
|
28
|
30
|
2
|
0 |
2
|
83
|
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
|
MME
|
25
|
28
|
29
|
2
|
2
|
81
|
|
DNAJB2
|
1
|
0 |
0 |
0 |
0 |
1
|
|
SEC61A1
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
not provided |
total |
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
4
|
0 |
0 |
0 |
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
|
3billion
|
3
|
1
|
2
|
0 |
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
0 |
2
|
2
|
0 |
6
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
3
|
2
|
0 |
0 |
6
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
4
|
0 |
0 |
6
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
5
|
0 |
0 |
5
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Next Generation Genetic Polyclinic
|
1
|
2
|
1
|
0 |
0 |
4
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
2
|
1
|
0 |
0 |
3
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Genomics England Pilot Project, Genomics England
|
2
|
1
|
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
2
|
1
|
0 |
0 |
0 |
3
|
|
MVZ Medizinische Genetik Mainz
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Neurology, Shenzhen Hospital, Southern Medical University
|
0 |
2
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
2
|
|
MVZ Martinsried, Medicover Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
2
|
|
CMT Laboratory, Bogazici University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetic Diseases Diagnostic Center, Koc University Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Human Genetics Research Center, Baqiyatallah University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Northcott Neuroscience Laboratory, ANZAC Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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