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 |
|
4
|
7
|
100
|
12
|
16
|
3
|
137
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
KNL1
|
4
|
7
|
100
|
12
|
16
|
3
|
137
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
83
|
9
|
4
|
0 |
96
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Baylor Genetics
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
|
Revvity Omics, Revvity
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Laboratory of Human Genetics, Universidade de São Paulo
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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