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 |
|
96
|
101
|
612
|
956
|
175
|
5
|
1920
|
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
CUBN
|
66
|
63
|
518
|
543
|
143
|
3
|
1322
|
|
AMN
|
23
|
29
|
67
|
315
|
25
|
1
|
453
|
|
AMN, LOC130056554
|
3
|
5
|
11
|
67
|
1
|
0 |
86
|
|
AMN, LOC130056553
|
1
|
2
|
2
|
16
|
2
|
0 |
22
|
|
CUBN, LOC126860871
|
1
|
1
|
6
|
11
|
2
|
0 |
21
|
|
CUBN, LOC129390143
|
0 |
0 |
7
|
4
|
2
|
0 |
13
|
|
AMN, CDC42BPB, LOC130056553
|
1
|
1
|
0 |
0 |
0 |
1
|
1
|
|
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
95
|
41
|
598
|
956
|
172
|
0 |
1862
|
|
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
|
0 |
49
|
0 |
0 |
0 |
0 |
49
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
3
|
9
|
10
|
0 |
0 |
0 |
22
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
3
|
0 |
4
|
|
Inserm U 954, Faculté de Médecine de Nancy
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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