CHEO Genetics Diagnostic Laboratory (Children's Hospital of Eastern Ontario)
General information
CHEO Genetics Diagnostic Laboratory
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa
Ontario
Canada - K1H 8L1
https://www.cheo.on.ca/gdl
Organization ID: 1050
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa
Ontario
Canada - K1H 8L1
https://www.cheo.on.ca/gdl
Organization ID: 1050
Personnel
- Mahdi Ghani, Contact
Phone: 16137377600
Email: mghani@cheo.on.ca - Mahdi Ghani, Contact
Phone: 16137377600
Email: mghani@cheo.on.ca - Olga Jarinova
Phone: (613) 737-7600
Email: ojarinova@cheo.on.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8382
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 63 | Mar 9, 2023 |
| ACTA2 | 19 | Jan 31, 2024 |
| ACTA2-AS1 | 7 | Jan 31, 2024 |
| ACTC1 | 37 | May 26, 2025 |
| ACTN2 | 116 | Jan 31, 2024 |
| ANKRD1 | 15 | Dec 23, 2021 |
| ARIH1 | 3 | Jan 30, 2024 |
| ATM | 262 | May 3, 2024 |
| BAG3 | 23 | Jan 31, 2024 |
| BARD1 | 31 | Jan 30, 2024 |
| BRCA1 | 219 | Jan 31, 2024 |
| BRCA2 | 421 | Jan 31, 2024 |
| BRIP1 | 79 | Jan 31, 2024 |
| C11orf65 | 92 | May 3, 2024 |
| C2orf49 | 10 | Mar 3, 2020 |
| CASQ2 | 30 | Mar 9, 2023 |
| CAV3 | 25 | Dec 23, 2021 |
| CDH1 | 75 | Jan 31, 2024 |
| CEP85L | 11 | Jan 31, 2024 |
| CHEK2 | 65 | Jan 31, 2024 |
| COL3A1 | 82 | Jan 31, 2024 |
| CRYAB | 7 | Mar 3, 2020 |
| CSRP3 | 40 | Aug 2, 2024 |
| CSRP3-AS1 | 1 | Apr 30, 2018 |
| CTF1 | 12 | Mar 9, 2023 |
| DES | 40 | Jan 31, 2024 |
| DNAAF3 | 2 | Mar 3, 2020 |
| DNASE1L1 | 1 | Apr 30, 2018 |
| DSC2 | 62 | Jan 31, 2024 |
| DSCAS | 4 | Dec 23, 2021 |
| DSG2 | 87 | Jan 31, 2024 |
| DSG2-AS1 | 39 | Jan 31, 2024 |
| DSP | 169 | Oct 25, 2024 |
| DSP-AS1 | 4 | Mar 9, 2023 |
| EFEMP2 | 8 | Jan 30, 2024 |
| EMD | 13 | Mar 9, 2023 |
| FBN1 | 323 | Oct 2, 2024 |
| FBXO11 | 1 | Mar 9, 2023 |
| FHL2 | 15 | Mar 3, 2020 |
| FLNC | 119 | Jul 7, 2025 |
| FLNC-AS1 | 43 | Jan 30, 2024 |
| FOXE3 | 8 | Jan 30, 2024 |
| GJD2-DT | 37 | May 26, 2025 |
| GLA | 22 | Jan 31, 2024 |
| HOXB13 | 1 | Jan 30, 2024 |
| JUP | 51 | Jan 31, 2024 |
| KCNJ8-AS1 | 13 | Dec 23, 2021 |
| LAMA4 | 71 | Mar 9, 2023 |
| LAMA4-AS1 | 1 | Mar 9, 2023 |
| LAMP2 | 23 | Jan 31, 2024 |
| LDB3 | 73 | Oct 25, 2024 |
| LINC01389 | 8 | Jan 30, 2024 |
| LMNA | 60 | Oct 2, 2024 |
| LOC101927055 | 33 | Jan 30, 2024 |
| LOC110121269 | 9 | Jan 30, 2024 |
| LOC110121486 | 4 | Oct 25, 2024 |
| LOC113939944 | 9 | Jan 31, 2024 |
| LOC114827850 | 8 | Mar 9, 2023 |
| LOC114827851 | 18 | Dec 23, 2021 |
| LOC126805765 | 7 | Mar 9, 2023 |
| LOC126805877 | 6 | Jan 30, 2024 |
| LOC126806067 | 4 | Dec 23, 2021 |
| LOC126806068 | 7 | Dec 23, 2021 |
| LOC126806420 | 12 | Jan 31, 2024 |
| LOC126806421 | 15 | Jan 31, 2024 |
| LOC126806422 | 25 | Jan 31, 2024 |
| LOC126806423 | 19 | Jan 31, 2024 |
| LOC126806424 | 21 | Jan 31, 2024 |
| LOC126806425 | 18 | Jan 31, 2024 |
| LOC126806426 | 10 | Jan 30, 2024 |
| LOC126806427 | 18 | Jan 31, 2024 |
| LOC126806428 | 12 | Jan 30, 2024 |
| LOC126806429 | 9 | Jan 31, 2024 |
| LOC126806430 | 21 | Jan 31, 2024 |
| LOC126806431 | 19 | Jan 31, 2024 |
| LOC126806433 | 13 | Mar 9, 2023 |
| LOC126806446 | 1 | Mar 3, 2020 |
| LOC126806791 | 5 | Mar 9, 2023 |
| LOC126806792 | 1 | Dec 23, 2021 |
| LOC126859766 | 5 | Mar 3, 2020 |
| LOC126860794 | 4 | Mar 9, 2023 |
| LOC126861896 | 11 | Mar 9, 2023 |
| LOC126861897 | 38 | Jan 31, 2024 |
| LOC126861898 | 38 | Feb 25, 2025 |
| LOC126862124 | 7 | Jan 31, 2024 |
| LOC126862571 | 28 | Jan 31, 2024 |
| LOC129390903 | 4 | Jan 31, 2024 |
| LOC129931597 | 3 | Dec 23, 2021 |
| LOC129935182 | 3 | Mar 9, 2023 |
| LOC129935183 | 6 | Jan 31, 2024 |
| LOC129935184 | 2 | Jan 31, 2024 |
| LOC129999273 | 3 | Jan 31, 2024 |
| LOC129999660 | 8 | Jan 31, 2024 |
| LOC130002223 | 2 | Apr 30, 2018 |
| LOC130003020 | 1 | Jan 31, 2024 |
| LOC130004109 | 5 | Dec 23, 2021 |
| LOC130004243 | 1 | Apr 30, 2018 |
| LOC130057019 | 2 | Jan 31, 2024 |
| LOC130057352 | 1 | Dec 23, 2021 |
| LOC130058878 | 8 | Mar 9, 2023 |
| LOC130061310 | 1 | Mar 9, 2023 |
| LOC130062340 | 3 | Jan 30, 2024 |
| LOC130062899 | 5 | Jan 30, 2024 |
| LOX | 10 | Jan 30, 2024 |
| MHRT | 52 | Jan 31, 2024 |
| MIR208B | 1 | Jan 30, 2024 |
| MLH1 | 80 | Jan 31, 2024 |
| MSH2 | 92 | Jan 31, 2024 |
| MSH6 | 113 | Jan 31, 2024 |
| MUS81 | 1 | Jan 30, 2024 |
| MYBPC3 | 451 | Oct 25, 2024 |
| MYH11 | 171 | Jan 31, 2024 |
| MYH6 | 138 | Mar 9, 2023 |
| MYH7 | 375 | Feb 25, 2025 |
| MYL2 | 40 | Jan 31, 2024 |
| MYL3 | 30 | Jan 31, 2024 |
| MYLK | 138 | Jan 31, 2024 |
| MYLK-AS1 | 14 | Jan 30, 2024 |
| MYLK2 | 35 | Dec 23, 2021 |
| MYOZ2 | 20 | Dec 23, 2021 |
| NDE1 | 75 | Jan 31, 2024 |
| NEXN | 86 | Jan 31, 2024 |
| NOTCH1 | 224 | Jan 31, 2024 |
| OXTR | 22 | Dec 23, 2021 |
| PALB2 | 82 | Jan 31, 2024 |
| PKP2 | 91 | Jan 31, 2024 |
| PLN | 11 | Jan 31, 2024 |
| PMS2 | 115 | Jan 31, 2024 |
| PRKAG2 | 71 | Jan 31, 2024 |
| PRKG1 | 9 | Jan 30, 2024 |
| PTEN | 27 | Jan 31, 2024 |
| RAD51C | 37 | Jan 31, 2024 |
| RAD51D | 26 | Jan 31, 2024 |
| RAD51L3-RFFL | 26 | Jan 31, 2024 |
| RBM20 | 112 | Jan 31, 2024 |
| ROBO4 | 34 | Jan 30, 2024 |
| RPL36A-HNRNPH2 | 22 | Jan 31, 2024 |
| RYR2 | 169 | Mar 9, 2023 |
| SCN5A | 61 | Jan 30, 2024 |
| SGCD | 11 | Dec 23, 2021 |
| SLC2A10 | 45 | Jan 31, 2024 |
| SMAD2 | 2 | Jan 30, 2024 |
| SMAD3 | 48 | Mar 10, 2025 |
| SMAD4 | 9 | Dec 23, 2021 |
| SRFBP1 | 10 | Jan 30, 2024 |
| SSUH2 | 3 | Dec 23, 2021 |
| STK11 | 52 | Jan 31, 2024 |
| TAFAZZIN | 6 | Apr 30, 2018 |
| TCAP | 13 | Mar 9, 2023 |
| TGFB2 | 27 | Jan 30, 2024 |
| TGFB3 | 21 | Jan 31, 2024 |
| TGFBR1 | 40 | Jan 31, 2024 |
| TGFBR2 | 48 | Jan 31, 2024 |
| THSD4 | 19 | Jan 30, 2024 |
| TMEM43 | 27 | Jan 31, 2024 |
| TNNC1 | 24 | Jan 30, 2024 |
| TNNI3 | 52 | Sep 23, 2024 |
| TNNT2 | 77 | Jan 31, 2024 |
| TP53 | 42 | Jan 31, 2024 |
| TPM1 | 52 | Jan 31, 2024 |
| TTN | 2057 | Jan 10, 2025 |
| TTN-AS1 | 1228 | Jan 31, 2024 |
| TTR | 28 | Jan 31, 2024 |
| VANGL1 | 2 | Apr 30, 2018 |
| VCL | 65 | Jan 31, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast and/or ovarian cancer | 1802 | May 3, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Mar 9, 2015 |
| Cardiomyopathy | 5272 | Jul 7, 2025 |
| Familial thoracic aortic aneurysm and aortic dissection | 1288 | Mar 10, 2025 |
| Hereditary breast ovarian cancer syndrome | 10 | Dec 29, 2023 |
| not provided | 1 | Aug 24, 2023 |
| not specified | 8 | Aug 28, 2017 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Angelman syndrome | 1 test |
| Arterial tortuosity syndrome | 2 tests |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 3 tests |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 tests |
| Brugada syndrome | 1 test |
| Cardiac arrhythmia | 1 test |
| Cardiomyopathy | 2 tests |
| Catecholaminergic polymorphic ventricular tachycardia | 1 test |
| Facioscapulohumeral muscular dystrophy | 1 test |
| Familial pancreatic carcinoma | 1 test |
| Fragile X syndrome | 1 test |
| Hereditary breast ovarian cancer syndrome | 1 test |
| Hereditary hemochromatosis | 1 test |
| Hypertrophic cardiomyopathy | 3 tests |
| Loeys-Dietz syndrome | 2 tests |
| Long QT syndrome | 1 test |
| Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 2 tests |
| Marfan syndrome | 2 tests |
| Myotonic dystrophy type 2 | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Prader-Willi syndrome | 1 test |
| Spinal muscular atrophy | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Thrombophilia | 1 test |