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 |
total |
6
|
7
|
61
|
15
|
12
|
98
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
ACTC1, GJD2-DT
|
6
|
7
|
61
|
15
|
12
|
98
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
50
|
15
|
11
|
76
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
0 |
1
|
3
|
0 |
1
|
5
|
3billion
|
1
|
0 |
2
|
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
|
0 |
2
|
0 |
0 |
0 |
2
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
2
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Analisis Clinicos, Hospital Valle de Los Pedroches
|
0 |
1
|
0 |
0 |
0 |
1
|
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