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 |
|
59
|
88
|
130
|
311
|
38
|
584
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
49
|
15
|
66
|
304
|
20
|
454
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
41
|
6
|
23
|
70
|
|
Baylor Genetics
|
6
|
31
|
6
|
0 |
0 |
43
|
|
Natera, Inc.
|
2
|
0 |
18
|
13
|
10
|
43
|
|
Counsyl
|
1
|
19
|
5
|
0 |
0 |
25
|
|
Fulgent Genetics, Fulgent Genetics
|
4
|
17
|
2
|
2
|
0 |
25
|
|
Myriad Genetics, Inc.
|
2
|
18
|
0 |
0 |
0 |
20
|
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
12
|
|
Genome-Nilou Lab
|
0 |
0 |
3
|
1
|
5
|
9
|
|
Revvity Omics, Revvity
|
2
|
4
|
3
|
0 |
0 |
9
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
4
|
0 |
0 |
0 |
8
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
4
|
4
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
2
|
1
|
1
|
0 |
0 |
4
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
0 |
1
|
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
2
|
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
2
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Hadassah Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
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