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 |
17
|
10
|
302
|
152
|
58
|
5
|
534
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
KCNA1
|
17
|
10
|
280
|
146
|
57
|
5
|
505
|
KCNA1, LOC130007218
|
0 |
0 |
19
|
6
|
1
|
0 |
26
|
AKAP3, ANO2, C12orf4, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AKAP3, C12orf4, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
KCNA1, KCNA5
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
7
|
1
|
202
|
150
|
7
|
0 |
367
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
95
|
1
|
56
|
0 |
152
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
9
|
7
|
1
|
0 |
17
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Revvity Omics, Revvity
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
3
|
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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