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 |
|
8
|
4
|
10
|
1
|
1
|
24
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
GDI1
|
7
|
4
|
10
|
1
|
1
|
23
|
|
ATP6AP1, ATP6AP1-DT, CTAG1A, DNASE1L1, EMD, FAM223A, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, LOC107181288, LOC107988021, LOC107988022, LOC107988032, LOC107988033, LOC108281126, LOC121627985, LOC121853072, LOC129929052, LOC130068856, LOC130068857, LOC130068858, LOC130068859, LOC130068860, LOC130068861, LOC130068862, LOC130068863, LOC130068864, LOC130068865, LOC130068866, LOC130068867, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, MIR6858, PLXNA3, RPL10, SLC10A3, SNORA70, TAFAZZIN, UBL4A
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
4
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
2
|
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
2
|
|
3billion
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Research Institute of Medical Genetics, Tomsk National Research Medical Center of Russian Academy of Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
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