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 |
31
|
13
|
250
|
334
|
46
|
612
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
23
|
7
|
172
|
296
|
16
|
514
|
GeneDx
|
1
|
3
|
39
|
55
|
43
|
141
|
Ambry Genetics
|
0 |
1
|
29
|
26
|
8
|
64
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
47
|
5
|
8
|
60
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
9
|
7
|
16
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
12
|
0 |
2
|
14
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
6
|
4
|
12
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
8
|
6
|
12
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
5
|
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
4
|
0 |
1
|
7
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
6
|
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
4
|
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
3
|
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
1
|
4
|
5
|
Revvity Omics, Revvity
|
1
|
0 |
3
|
0 |
0 |
4
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
3
|
0 |
3
|
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
|
2
|
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
1
|
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