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 |
30
|
14
|
878
|
683
|
87
|
3
|
1609
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
MYLK
|
29
|
12
|
843
|
660
|
85
|
3
|
1547
|
LOC126806791, MYLK
|
0 |
2
|
19
|
20
|
1
|
0 |
41
|
LOC126806792, MYLK
|
0 |
0 |
7
|
3
|
0 |
0 |
10
|
LOC129937401, MYLK
|
0 |
0 |
8
|
0 |
1
|
0 |
9
|
ADCY5, CCDC14, HACD2, HEG1, ITGB5, KALRN, MUC13, MYLK, OSBPL11, ROPN1, SLC12A8, SNX4, UMPS, ZNF148
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADCY5, HACD2, MYLK
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
25
|
9
|
777
|
651
|
78
|
0 |
1540
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
117
|
32
|
29
|
0 |
178
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
4
|
2
|
0 |
7
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cardiogenetics, Center of Medical Genetics, Antwerp, Belgium
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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