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 |
26
|
7
|
90
|
42
|
64
|
18
|
231
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Clinical Services Laboratory,Illumina
|
2
|
0 |
83
|
42
|
59
|
0 |
186
|
GenomeConnect - CureCADASIL
|
0 |
0 |
0 |
0 |
0 |
18
|
18
|
Mendelics
|
5
|
1
|
3
|
1
|
4
|
0 |
14
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
5
|
4
|
0 |
0 |
0 |
12
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
GeneReviews
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Neurology,National Cerebral and Cardiovascular Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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