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 |
|
7
|
9
|
13
|
0 |
9
|
1
|
37
|
Gene and significance breakdown #
Total genes and gene combinations: 7
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
ITPR1
|
3
|
6
|
11
|
7
|
1
|
26
|
|
ITPR1, LOC126806590
|
2
|
0 |
1
|
2
|
0 |
5
|
|
SUMF1
|
0 |
1
|
1
|
0 |
0 |
2
|
|
EGOT, ITPR1
|
0 |
1
|
0 |
0 |
0 |
1
|
|
EGOT, ITPR1, ITPR1-DT, LOC112935932, LOC122889020, LOC122889021, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, LOC129936064, LOC129936065, LOC129936066
|
1
|
0 |
0 |
0 |
0 |
1
|
|
ITPR1, ITPR1-DT, LOC112935931, LOC112935932, LOC121725127, LOC122889019, LOC122889020, LOC129936053, LOC129936054, LOC129936055, LOC129936056, LOC129936057, LOC129936058, LOC129936059, LOC129936060, LOC129936061, LOC129936062, LOC129936063, SETMAR, SUMF1
|
1
|
0 |
0 |
0 |
0 |
1
|
|
RUBCN
|
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
|
Genome-Nilou Lab
|
0 |
0 |
0 |
8
|
0 |
8
|
|
Baylor Genetics
|
1
|
1
|
3
|
0 |
0 |
5
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
3
|
0 |
0 |
4
|
|
Solve-RD Consortium
|
0 |
4
|
0 |
0 |
0 |
4
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
1
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
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