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 |
66
|
63
|
335
|
338
|
121
|
5
|
868
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
36
|
26
|
263
|
288
|
15
|
0 |
628
|
GeneDx
|
2
|
5
|
10
|
41
|
101
|
0 |
159
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
55
|
5
|
25
|
0 |
86
|
Medical Affairs, Dicerna Pharmaceuticals
|
19
|
21
|
5
|
0 |
0 |
0 |
45
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
1
|
12
|
0 |
21
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
21
|
0 |
21
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
10
|
1
|
0 |
20
|
Revvity Omics, Revvity Omics
|
2
|
4
|
12
|
0 |
0 |
0 |
18
|
Ambry Genetics
|
1
|
0 |
13
|
1
|
0 |
0 |
15
|
OMIM
|
13
|
0 |
1
|
0 |
0 |
0 |
14
|
Athena Diagnostics Inc
|
0 |
0 |
7
|
3
|
4
|
0 |
14
|
Preventiongenetics, part of Exact Sciences
|
1
|
2
|
0 |
1
|
10
|
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
9
|
2
|
1
|
0 |
14
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
3
|
0 |
7
|
0 |
10
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
3
|
0 |
5
|
0 |
8
|
Baylor Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
5
|
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
1
|
0 |
2
|
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Bioinformatics Core, Luxembourg Center for Systems Biomedicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Care4Rare-SOLVE, CHEO
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Cirak Lab, University Hospital Cologne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
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 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. Faghihi's Medical Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development, UConn Health Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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