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 |
|
24
|
16
|
327
|
196
|
62
|
5
|
566
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
7
|
1
|
181
|
146
|
7
|
0 |
342
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
102
|
38
|
56
|
0 |
161
|
|
GeneDx
|
2
|
2
|
20
|
7
|
14
|
0 |
45
|
|
Athena Diagnostics Inc
|
2
|
2
|
12
|
4
|
11
|
0 |
31
|
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
11
|
14
|
3
|
0 |
31
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
9
|
7
|
1
|
0 |
17
|
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
|
Ambry Genetics
|
2
|
2
|
7
|
4
|
0 |
0 |
15
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
3
|
6
|
0 |
0 |
9
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
4
|
1
|
4
|
0 |
9
|
|
Revvity Omics, Revvity
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
4
|
0 |
5
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
3
|
4
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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