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 |
7
|
13
|
296
|
188
|
39
|
1
|
537
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
0 |
0 |
171
|
168
|
15
|
0 |
354
|
ISCA site 1
|
0 |
0 |
36
|
5
|
0 |
0 |
41
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
26
|
0 |
0 |
0 |
26
|
Bionano Laboratories
|
0 |
0 |
21
|
0 |
0 |
0 |
21
|
Ambry Genetics
|
0 |
0 |
20
|
0 |
0 |
0 |
20
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
16
|
0 |
16
|
ISCA site 4
|
1
|
0 |
9
|
6
|
0 |
0 |
16
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
1
|
14
|
0 |
0 |
15
|
GeneDx
|
1
|
1
|
9
|
0 |
2
|
0 |
13
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Athena Diagnostics Inc
|
0 |
0 |
1
|
2
|
3
|
0 |
6
|
Department of Psychiatry, Nagoya University
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
ISCA Site 6
|
1
|
0 |
0 |
2
|
3
|
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
2
|
1
|
1
|
0 |
6
|
Bioinformatics Core, Luxembourg Center for Systems Biomedicine
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ISCA site 2
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ISCA site 8
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics Laboratory, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Geschwind lab, University of California Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Medical Genetics Laboratory, CHRU Nancy
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of genome editing, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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