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 |
27
|
24
|
1351
|
2215
|
172
|
9
|
3665
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
DYNC1H1
|
26
|
24
|
1291
|
2132
|
166
|
9
|
3520
|
DYNC1H1, LOC126862060
|
1
|
0 |
46
|
80
|
4
|
0 |
126
|
DYNC1H1, LOC130056502
|
0 |
0 |
7
|
3
|
0 |
0 |
10
|
DYNC1H1, LOC125078040
|
0 |
0 |
4
|
0 |
2
|
0 |
6
|
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DYNC1H1, LOC130056499, LOC130056500, PPP2R5C
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
27
|
12
|
1194
|
2179
|
161
|
0 |
3573
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
92
|
44
|
43
|
0 |
179
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
31
|
0 |
0 |
0 |
31
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
11
|
14
|
0 |
0 |
27
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
14
|
1
|
0 |
0 |
15
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
7
|
0 |
1
|
0 |
9
|
Mendelics
|
0 |
3
|
3
|
1
|
0 |
0 |
7
|
Baylor Genetics
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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