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 |
8
|
3
|
87
|
77
|
20
|
2
|
168
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
5
|
1
|
54
|
55
|
10
|
0 |
125
|
GeneDx
|
0 |
1
|
12
|
8
|
16
|
0 |
37
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
18
|
11
|
10
|
0 |
29
|
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
|
1
|
0 |
4
|
7
|
6
|
0 |
18
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
7
|
6
|
0 |
14
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
9
|
4
|
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
10
|
0 |
2
|
0 |
12
|
Athena Diagnostics
|
0 |
0 |
4
|
1
|
4
|
0 |
9
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
3
|
1
|
0 |
7
|
Ambry Genetics
|
0 |
0 |
3
|
1
|
3
|
0 |
7
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
4
|
1
|
2
|
0 |
7
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
2
|
3
|
1
|
0 |
7
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
4
|
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
1
|
0 |
3
|
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen
|
0 |
0 |
3
|
0 |
1
|
0 |
4
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Leiden Open Variation Database
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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