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 |
126
|
14
|
539
|
499
|
27
|
8
|
1198
|
Gene and significance breakdown #
Total genes and gene combinations: 11
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CDKN1C
|
92
|
8
|
531
|
496
|
26
|
0 |
1138
|
NSD1
|
25
|
5
|
5
|
3
|
1
|
0 |
39
|
H19, H19-ICR, MRPL23
|
1
|
0 |
0 |
0 |
0 |
6
|
7
|
DNMT1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
H19-ICR, MRPL23
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
KCNQ1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC126807619, LOC129995362, NSD1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC126807619, NSD1
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
CTSD, H19, IFITM10, IGF2, INS, INS-IGF2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
H19-ICR
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KCNQ1OT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
104
|
10
|
522
|
492
|
24
|
0 |
1152
|
Sema4, Sema4
|
0 |
0 |
12
|
15
|
10
|
0 |
37
|
Baylor Genetics
|
0 |
2
|
32
|
0 |
0 |
0 |
34
|
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
UMR_S938_Pr. Le Bouc INSERM
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Mendelics
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
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
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
The Genetics Institute, Rambam Health Care Campus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, West China Hospital, Sichuan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Pediatrics, Graduate School of Medicine, Nagasaki University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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