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 |
total |
13
|
11
|
170
|
107
|
40
|
305
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
6
|
1
|
83
|
81
|
23
|
194
|
Ambry Genetics
|
0 |
0 |
50
|
3
|
0 |
53
|
GeneDx
|
0 |
0 |
10
|
8
|
23
|
41
|
Athena Diagnostics
|
0 |
1
|
15
|
2
|
12
|
30
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
6
|
15
|
22
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
12
|
8
|
0 |
20
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
5
|
11
|
0 |
18
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
7
|
6
|
4
|
17
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
8
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
5
|
1
|
8
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
2
|
6
|
0 |
0 |
8
|
Revvity Omics, Revvity
|
0 |
2
|
4
|
0 |
0 |
6
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
2
|
3
|
1
|
0 |
6
|
Baylor Genetics
|
0 |
2
|
1
|
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
1
|
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
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Institutes of Health independently verfies the submitted
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