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 |
risk factor |
total |
2
|
2
|
14
|
2
|
1
|
3
|
23
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
NLGN4X
|
2
|
1
|
11
|
2
|
0 |
3
|
18
|
HCFC1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
EFHC2
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
HUWE1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SMARCA1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
3
|
3
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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