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 |
19
|
39
|
68
|
25
|
22
|
1
|
160
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
10
|
17
|
0 |
73
|
Natera, Inc.
|
3
|
3
|
15
|
13
|
16
|
0 |
50
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
10
|
26
|
0 |
0 |
0 |
0 |
36
|
Fulgent Genetics, Fulgent Genetics
|
2
|
5
|
3
|
3
|
0 |
0 |
13
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity Omics
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Counsyl
|
0 |
2
|
2
|
0 |
1
|
0 |
5
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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