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 |
9
|
16
|
296
|
341
|
53
|
2
|
702
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BICD2
|
9
|
16
|
295
|
341
|
53
|
2
|
701
|
ASPN, BICD2, CENPP, ECM2, IARS1, IPPK, NOL8, OGN, OMD, PRSS47, SPTLC1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
5
|
8
|
276
|
338
|
50
|
0 |
677
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Département de Neurologie, Hospices Civils de Lyon
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
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
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
School of Bio-Medicine, Mongolian National University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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Institutes of Health independently verfies the submitted
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