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 |
total |
9
|
11
|
16
|
1
|
9
|
46
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
VPS13C
|
9
|
11
|
16
|
1
|
9
|
46
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Revvity Omics, Revvity
|
2
|
4
|
5
|
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
1
|
1
|
3
|
0 |
0 |
5
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
4
|
1
|
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
4
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
1
|
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
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