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 |
86
|
178
|
226
|
60
|
37
|
60
|
618
|
Gene and significance breakdown #
Total genes and gene combinations: 16
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CDH23
|
46
|
145
|
108
|
12
|
11
|
0 |
319
|
AIP
|
9
|
9
|
63
|
11
|
15
|
49
|
137
|
GNAS
|
12
|
0 |
11
|
33
|
2
|
0 |
57
|
C10orf105, CDH23
|
7
|
15
|
9
|
0 |
2
|
0 |
33
|
AIP, LOC130006206
|
0 |
0 |
20
|
1
|
4
|
9
|
31
|
ALK
|
0 |
0 |
11
|
1
|
0 |
0 |
12
|
CDH23, LOC111982869
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
MEN1
|
1
|
2
|
0 |
1
|
3
|
0 |
7
|
USP8
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
GNAI2
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GPR101
|
2
|
0 |
1
|
0 |
0 |
2
|
2
|
AIP, LOC130006204
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AIP, LOC130006206, LOC130006207
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CDH23, VSIR
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LRP2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
52
|
162
|
85
|
0 |
0 |
0 |
299
|
Fulgent Genetics, Fulgent Genetics
|
13
|
4
|
113
|
47
|
8
|
0 |
185
|
GeneReviews
|
0 |
8
|
0 |
1
|
0 |
60
|
69
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
11
|
10
|
17
|
0 |
39
|
OMIM
|
23
|
0 |
0 |
0 |
0 |
0 |
23
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
20
|
2
|
0 |
0 |
22
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
0 |
0 |
0 |
1
|
5
|
0 |
6
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Aziz Sancar Institute of Experimental Medicine, Istanbul University
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Korbonits Lab, Queen Mary University of London
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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