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 |
|
17
|
7
|
17
|
3
|
1
|
9
|
49
|
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
TBC1D24
|
16
|
7
|
17
|
3
|
1
|
9
|
48
|
|
ATP6V1C1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
8
|
3
|
1
|
0 |
13
|
|
Division of Medical Genetics; Sainte-Justine Hospital
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
New York Genome Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Variantyx, Inc.
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Royal Medical Services, Bahrain Defence Force Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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