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 |
|
21
|
23
|
335
|
302
|
71
|
1
|
707
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
6
|
9
|
227
|
279
|
30
|
0 |
551
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
90
|
13
|
50
|
0 |
153
|
|
Ambry Genetics
|
0 |
0 |
19
|
1
|
0 |
0 |
20
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
13
|
3
|
2
|
0 |
18
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
5
|
8
|
0 |
16
|
|
Athena Diagnostics Inc
|
0 |
0 |
2
|
2
|
10
|
0 |
14
|
|
Baylor Genetics
|
1
|
10
|
0 |
0 |
0 |
0 |
11
|
|
GeneDx
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
7
|
1
|
0 |
8
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
4
|
3
|
0 |
7
|
|
Elsea Laboratory, Baylor College of Medicine
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
3
|
0 |
0 |
6
|
|
Bonnen Lab, Baylor College of Medicine
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
DECIPHERD-UDD, Universidad del Desarrollo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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