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 |
likely risk allele |
not provided |
total |
125
|
93
|
1542
|
1553
|
207
|
1
|
50
|
3334
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
not provided |
total |
Invitae
|
110
|
21
|
1269
|
1456
|
86
|
0 |
0 |
2942
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
195
|
17
|
27
|
0 |
0 |
240
|
GeneDx
|
1
|
4
|
51
|
34
|
118
|
0 |
0 |
208
|
Ambry Genetics
|
1
|
0 |
145
|
15
|
0 |
0 |
0 |
161
|
Revvity Omics, Revvity
|
8
|
2
|
124
|
0 |
0 |
0 |
0 |
134
|
PreventionGenetics, part of Exact Sciences
|
1
|
3
|
24
|
65
|
33
|
0 |
0 |
126
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
2
|
48
|
22
|
12
|
0 |
0 |
84
|
Baylor Genetics
|
6
|
48
|
9
|
0 |
0 |
0 |
0 |
63
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
12
|
40
|
4
|
0 |
0 |
58
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
39
|
7
|
0 |
0 |
0 |
46
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
40
|
40
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
30
|
3
|
0 |
0 |
36
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
32
|
0 |
0 |
0 |
0 |
32
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
20
|
9
|
1
|
0 |
0 |
30
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
14
|
12
|
1
|
0 |
0 |
28
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
2
|
23
|
0 |
0 |
26
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
18
|
6
|
0 |
0 |
25
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
17
|
4
|
0 |
0 |
0 |
21
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
18
|
0 |
0 |
18
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
11
|
4
|
0 |
0 |
16
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
0 |
3
|
7
|
0 |
0 |
0 |
0 |
10
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
7
|
0 |
0 |
8
|
Eurofins Ntd Llc (ga)
|
0 |
1
|
5
|
2
|
0 |
0 |
0 |
8
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
7
|
1
|
0 |
0 |
0 |
8
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Blueprint Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
2
|
0 |
0 |
4
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
1
|
1
|
1
|
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Mendelics
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
3
|
Birmingham Platelet Group; University of Birmingham
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
1
|
0 |
0 |
0 |
3
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Fan Lab, Zhengzhou University
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Hadassah Hebrew University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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