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 |
|
64
|
23
|
398
|
344
|
45
|
1
|
832
|
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
COG5
|
56
|
20
|
356
|
327
|
42
|
1
|
760
|
|
COG5, LOC129389837
|
3
|
2
|
17
|
11
|
1
|
0 |
33
|
|
COG5, DUS4L, DUS4L-BCAP29
|
1
|
1
|
13
|
5
|
2
|
0 |
22
|
|
COG5, HBP1
|
0 |
0 |
10
|
1
|
0 |
0 |
11
|
|
COG5, DUS4L
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
BCAP29, COG5, DUS4L, SLC26A4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
COG5, DUS4L, DUS4L-BCAP29, LOC129999121
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
COG5, DUS4L, GPR22
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
COG5, GPR22
|
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
|
52
|
17
|
305
|
329
|
41
|
0 |
744
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
93
|
11
|
10
|
0 |
114
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
9
|
2
|
2
|
0 |
14
|
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
1
|
0 |
1
|
0 |
0 |
3
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
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
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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