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 |
|
3
|
1
|
285
|
176
|
69
|
506
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
161
|
101
|
28
|
290
|
|
GeneDx
|
0 |
0 |
28
|
79
|
57
|
164
|
|
Ambry Genetics
|
0 |
0 |
87
|
1
|
0 |
88
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
9
|
11
|
8
|
28
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
7
|
21
|
28
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
6
|
8
|
0 |
14
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
8
|
0 |
0 |
8
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
8
|
0 |
0 |
8
|
|
Athena Diagnostics
|
0 |
0 |
2
|
0 |
5
|
7
|
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Mendelics
|
0 |
0 |
2
|
1
|
1
|
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
1
|
3
|
0 |
0 |
4
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
3
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
1
|
|
ISCA site 1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Hereditary Hearing Loss Research Unit, University of Madras
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
0 |
1
|
0 |
0 |
1
|
|
AiLife Diagnostics, AiLife Diagnostics
|
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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