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 |
38
|
15
|
404
|
222
|
43
|
1
|
681
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GAN
|
34
|
15
|
361
|
203
|
40
|
0 |
615
|
GAN, LOC130059498
|
3
|
0 |
41
|
19
|
3
|
1
|
63
|
GAN, LOC130059497
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, GAN, GCSH, PKD1L2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
25
|
5
|
265
|
203
|
19
|
0 |
517
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
83
|
15
|
26
|
0 |
125
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
3
|
0 |
63
|
0 |
0 |
0 |
66
|
Inherited Neuropathy Consortium
|
0 |
0 |
50
|
1
|
0 |
0 |
51
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
2
|
3
|
3
|
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
3
|
1
|
0 |
0 |
5
|
Baylor Genetics
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
3billion
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Laboratory, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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