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 |
69
|
28
|
1205
|
898
|
146
|
2
|
2299
|
Gene and significance breakdown #
Total genes and gene combinations: 21
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
IL17RA
|
15
|
4
|
415
|
245
|
45
|
0 |
702
|
IL17RC
|
3
|
1
|
310
|
239
|
37
|
0 |
589
|
STAT1
|
38
|
19
|
185
|
241
|
28
|
2
|
507
|
TRAF3IP2
|
6
|
3
|
67
|
56
|
12
|
0 |
144
|
IL17F
|
1
|
0 |
87
|
43
|
11
|
0 |
135
|
LOC114803478, TRAF3IP2
|
3
|
0 |
54
|
26
|
3
|
0 |
83
|
IL17RC, LOC129936144
|
0 |
0 |
37
|
6
|
1
|
0 |
44
|
IL17RA, LOC129391259
|
0 |
0 |
14
|
21
|
1
|
0 |
32
|
IL17RA, LOC130066894
|
0 |
0 |
13
|
6
|
3
|
0 |
20
|
IL17RA, LOC126863094
|
0 |
0 |
7
|
8
|
1
|
0 |
15
|
IL17RC, LOC129936143
|
0 |
0 |
9
|
5
|
1
|
0 |
14
|
CLEC7A
|
1
|
0 |
2
|
2
|
1
|
0 |
4
|
IL17RA, LOC130066893
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BRK1, CIDEC, CRELD1, EMC3, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, PRRT3, VHL
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CIDEC, CRELD1, EMC3, FANCD2, IL17RC, IL17RE, JAGN1, PRRT3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CRELD1, IL17RC, LOC129936144
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
IL17RC, IL17RE, JAGN1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IL21R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
STAT1, STAT4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
42
|
22
|
1042
|
880
|
120
|
0 |
2106
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
161
|
19
|
32
|
0 |
213
|
OMIM
|
32
|
0 |
0 |
0 |
0 |
0 |
32
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
10
|
2
|
0 |
0 |
13
|
Baylor Genetics
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
4
|
4
|
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
3billion
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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