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 |
53
|
20
|
525
|
307
|
58
|
1
|
922
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CHRND
|
20
|
10
|
252
|
159
|
25
|
0 |
444
|
CHRNA1
|
20
|
7
|
208
|
146
|
19
|
0 |
381
|
CHRNG
|
11
|
3
|
30
|
2
|
4
|
0 |
50
|
CHRNG, TIGD1
|
1
|
0 |
31
|
0 |
6
|
1
|
38
|
CHRND, CHRNG
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
ALPG, ALPI, ALPP, CHRND, DIS3L2, ECEL1, PRSS56
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ALPI, CHRND, CHRNG, ECEL1, PRSS56
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHRNA1, LOC122861243, LOC129935149, LOC129935150
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHRNA1, LOC129935149, LOC129935150
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRND, CHRNG, LOC129935864, TIGD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
37
|
11
|
384
|
294
|
34
|
0 |
760
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
145
|
11
|
29
|
0 |
185
|
Fulgent Genetics, Fulgent Genetics
|
2
|
2
|
9
|
1
|
0 |
0 |
14
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Baylor Genetics
|
3
|
0 |
3
|
0 |
0 |
0 |
6
|
3billion
|
3
|
0 |
1
|
2
|
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Mendelics
|
0 |
1
|
0 |
0 |
2
|
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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