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 |
|
22
|
17
|
8
|
0 |
39
|
4
|
83
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
ANO5
|
22
|
17
|
8
|
39
|
4
|
83
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
Genome-Nilou Lab
|
0 |
0 |
0 |
39
|
0 |
39
|
|
MGZ Medical Genetics Center
|
5
|
4
|
4
|
0 |
0 |
13
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
3
|
2
|
3
|
0 |
0 |
8
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
|
Athena Diagnostics
|
4
|
0 |
0 |
0 |
0 |
4
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
4
|
4
|
|
3billion
|
3
|
1
|
0 |
0 |
0 |
4
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
3
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
3
|
|
SIB Swiss Institute of Bioinformatics
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
GeniaGeo, Laboratorio Genia
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute for Molecular Bioscience, The University of Queensland
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Department of Human Genetics, Hannover Medical School
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuromuscular disorders lab, University of Helsinki
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
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