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 |
29
|
14
|
400
|
385
|
99
|
1
|
925
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
KAT6B
|
28
|
14
|
399
|
384
|
99
|
1
|
922
|
ADK, AP3M1, C10orf55, COMTD1, DLG5, DUSP13B, DUSP29, KAT6B, KCNMA1, LOC100131132, LRMDA, PLAU, POLR3A, RPS24, SAMD8, VCL, VDAC2, ZNF503
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADK, COMTD1, DUSP13B, DUSP29, KAT6B, LRMDA, SAMD8, VDAC2, ZNF503
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COMTD1, DUSP13B, DUSP29, KAT6B, SAMD8, VDAC2, ZNF503
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
18
|
1
|
393
|
384
|
99
|
0 |
895
|
Baylor Genetics
|
2
|
1
|
5
|
0 |
0 |
0 |
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Mendelics
|
2
|
2
|
0 |
2
|
0 |
0 |
6
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics, Medical University of Vienna
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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