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 |
|
524
|
273
|
2712
|
3895
|
218
|
11
|
7547
|
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
RYR1
|
505
|
268
|
2612
|
3773
|
206
|
9
|
7293
|
|
LOC126862902, RYR1
|
4
|
4
|
61
|
75
|
10
|
0 |
151
|
|
LOC130064357, RYR1
|
11
|
0 |
23
|
18
|
2
|
0 |
54
|
|
LOC129391106, RYR1
|
4
|
1
|
15
|
29
|
0 |
2
|
48
|
|
ACP7, ACTN4, C19orf33, CAPN12, CATSPERG, DPF1, ECH1, EIF3K, FAM98C, FBXO17, FBXO27, GGN, HNRNPL, IFNL3, KCNK6, LGALS4, LGALS7, LGALS7B, MAP4K1, MRPS12, NCCRP1, NFKBIB, PAK4, PPP1R14A, PSMD8, RASGRP4, RINL, RYR1, SARS2, SIPA1L3, SIRT2, SPINT2, SPRED3, SYCN, WDR87, YIF1B
|
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
|
523
|
242
|
2639
|
3855
|
215
|
0 |
7474
|
|
PreventionGenetics, part of Exact Sciences
|
10
|
24
|
158
|
168
|
9
|
0 |
369
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
9
|
3
|
0 |
0 |
0 |
0 |
12
|
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
6
|
0 |
0 |
0 |
8
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Dasa
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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