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 |
4
|
1
|
2216
|
1514
|
149
|
6
|
3802
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
0 |
1159
|
952
|
98
|
0 |
2210
|
Ambry Genetics
|
0 |
0 |
1166
|
624
|
0 |
0 |
1790
|
GeneDx
|
0 |
1
|
15
|
73
|
65
|
0 |
154
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
26
|
2
|
0 |
37
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
11
|
3
|
2
|
0 |
16
|
Baylor Genetics
|
0 |
0 |
13
|
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
7
|
2
|
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
5
|
3
|
1
|
0 |
9
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
7
|
1
|
0 |
9
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
1
|
2
|
0 |
6
|
Blueprint Genetics
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Revvity Omics, Revvity Omics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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