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
|
19
|
7
|
0 |
39
|
4
|
84
|
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
|
19
|
7
|
39
|
4
|
84
|
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
|
3
|
2
|
0 |
0 |
8
|
|
3billion
|
4
|
2
|
0 |
0 |
0 |
6
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
6
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
4
|
4
|
|
Athena Diagnostics
|
3
|
0 |
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
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
3
|
|
SIB Swiss Institute of Bioinformatics
|
1
|
2
|
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Human Genetics, Hannover Medical School
|
1
|
1
|
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
|
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuromuscular disorders lab, University of Helsinki
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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