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 |
121
|
84
|
1475
|
1502
|
96
|
45
|
3178
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
115
|
22
|
1288
|
1476
|
87
|
0 |
2988
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
204
|
18
|
28
|
0 |
251
|
Revvity Omics, Revvity Omics
|
8
|
2
|
130
|
0 |
0 |
0 |
140
|
Baylor Genetics
|
6
|
50
|
9
|
0 |
0 |
0 |
65
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
39
|
7
|
0 |
0 |
46
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
41
|
41
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
17
|
4
|
0 |
0 |
21
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
5
|
7
|
0 |
0 |
0 |
12
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
7
|
1
|
0 |
9
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
6
|
1
|
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Mendelics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
1
|
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Fan Lab, Zhengzhou University
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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