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 |
34
|
12
|
36
|
32
|
5
|
3
|
116
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
6
|
0 |
20
|
25
|
4
|
0 |
55
|
Fulgent Genetics, Fulgent Genetics
|
24
|
7
|
12
|
9
|
1
|
0 |
53
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Mendelics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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