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 |
11
|
3
|
3
|
0 |
1
|
1
|
18
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
B4GALNT1
|
11
|
3
|
3
|
1
|
1
|
18
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
not provided |
total |
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
1
|
1
|
3
|
0 |
0 |
5
|
Paris Brain Institute, Inserm - ICM
|
4
|
0 |
0 |
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
1
|
Section for Clinical Neurogenetics, University of Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
1
|
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
1
|
0 |
0 |
0 |
0 |
1
|
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