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 |
|
4
|
49
|
16
|
0 |
0 |
68
|
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
DYNC1H1
|
0 |
12
|
6
|
18
|
|
PAFAH1B1
|
0 |
11
|
2
|
13
|
|
TUBA1A
|
0 |
5
|
1
|
6
|
|
RELN
|
0 |
5
|
0 |
5
|
|
TUBB2B
|
0 |
3
|
2
|
5
|
|
DCX
|
0 |
3
|
1
|
4
|
|
ACTG1
|
0 |
2
|
1
|
3
|
|
TUBG1
|
0 |
2
|
1
|
3
|
|
CEP85L
|
0 |
1
|
1
|
2
|
|
MACF1
|
2
|
1
|
0 |
2
|
|
ASPA, CLUH, LOC100288728, METTL16, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3
|
1
|
0 |
0 |
1
|
|
CEP85L, LOC129997071
|
1
|
0 |
0 |
1
|
|
FOXG1
|
0 |
1
|
0 |
1
|
|
PDZD2
|
0 |
0 |
1
|
1
|
|
RELN, SLC26A5
|
0 |
1
|
0 |
1
|
|
TUBB
|
0 |
1
|
0 |
1
|
|
TUBB3
|
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
46
|
12
|
58
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
2
|
|
Dobyns Lab, Seattle Children's Research Institute
|
1
|
0 |
0 |
1
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
1
|
|
MVZ Praenatalmedizin und Genetik Nuernberg
|
0 |
1
|
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
1
|
0 |
1
|
|
Genetics Institute, Tel Aviv Sourasky Medical Center
|
0 |
1
|
0 |
1
|
|
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi
|
0 |
0 |
1
|
1
|
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