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 |
|
1
|
1
|
170
|
117
|
50
|
4
|
317
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
1
|
0 |
154
|
95
|
27
|
0 |
277
|
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
12
|
14
|
10
|
0 |
36
|
|
GeneDx
|
1
|
0 |
3
|
4
|
28
|
0 |
36
|
|
Ambry Genetics
|
1
|
0 |
10
|
3
|
0 |
0 |
14
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
1
|
5
|
5
|
0 |
12
|
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
0 |
5
|
4
|
0 |
10
|
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
6
|
0 |
7
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Natera, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Myriad Genetics, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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Institutes of Health independently verfies the submitted
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