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 |
|
5
|
1
|
289
|
170
|
44
|
4
|
474
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
0 |
0 |
243
|
126
|
15
|
0 |
384
|
|
GeneDx
|
0 |
0 |
25
|
43
|
39
|
0 |
107
|
|
Ambry Genetics
|
0 |
0 |
37
|
20
|
7
|
0 |
64
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
18
|
0 |
9
|
0 |
27
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
11
|
2
|
0 |
15
|
|
Athena Diagnostics Inc
|
0 |
0 |
8
|
1
|
5
|
0 |
14
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
2
|
7
|
0 |
0 |
9
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
2
|
5
|
1
|
0 |
8
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
5
|
1
|
0 |
0 |
6
|
|
New York Genome Center
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
|
Revvity Omics, Revvity
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Bioinformatics Core, Luxembourg Center for Systems Biomedicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
OMIM
|
2
|
0 |
0 |
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 |
2
|
0 |
2
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Cirak Lab, University Hospital Cologne
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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