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 |
risk factor |
total |
2
|
6
|
48
|
17
|
66
|
4
|
142
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
C3
|
2
|
6
|
48
|
17
|
66
|
4
|
142
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
38
|
17
|
66
|
0 |
121
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Baylor Genetics
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Mendelics
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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