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 |
|
64
|
85
|
155
|
243
|
29
|
510
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
AGA
|
64
|
85
|
155
|
243
|
29
|
510
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
52
|
10
|
94
|
233
|
24
|
413
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
50
|
4
|
3
|
57
|
|
Natera, Inc.
|
3
|
1
|
26
|
13
|
7
|
50
|
|
Baylor Genetics
|
10
|
38
|
0 |
0 |
0 |
48
|
|
Counsyl
|
1
|
27
|
3
|
2
|
0 |
33
|
|
Fulgent Genetics, Fulgent Genetics
|
6
|
18
|
4
|
1
|
0 |
29
|
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
21
|
0 |
0 |
0 |
21
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
8
|
5
|
0 |
0 |
0 |
13
|
|
OMIM
|
10
|
0 |
0 |
0 |
0 |
10
|
|
Genome-Nilou Lab
|
0 |
0 |
4
|
0 |
5
|
9
|
|
Revvity Omics, Revvity
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
1
|
0 |
0 |
2
|
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
2
|
3
|
|
MyeliNeuroGene Lab, McGill University Health Center Research Institute
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Myriad Genetics, Inc.
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
1
|
0 |
0 |
2
|
|
3billion
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
1
|
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