Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease (Montreal Heart Institute), MDL-MHI
General information
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, MDL-MHI
Montreal Heart Institute
5000, rue Bélanger
Montréal
Quebec
Canada - H1T 1C8
http://icm-mhi.org/fr/genetique
Organization ID: 505816
Montreal Heart Institute
5000, rue Bélanger
Montréal
Quebec
Canada - H1T 1C8
http://icm-mhi.org/fr/genetique
Organization ID: 505816
Personnel
- Julie Amyot, Lab Director
Phone: 15143763330
Email: ldm@icm-mhi.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8341
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS2 | 58 | Mar 28, 2026 |
| ABCC9 | 5 | Jul 24, 2020 |
| ABCG5 | 5 | Apr 9, 2025 |
| ABCG8 | 13 | Apr 9, 2025 |
| ACTA2 | 12 | Mar 28, 2026 |
| ACTA2-AS1 | 6 | Mar 28, 2026 |
| ACTC1 | 20 | Mar 28, 2026 |
| ACTN2 | 111 | Mar 28, 2026 |
| AKAP9 | 19 | Jul 24, 2020 |
| ALPK3 | 124 | Mar 28, 2026 |
| ANK2 | 105 | Mar 28, 2026 |
| ANKRD1 | 10 | Jul 24, 2020 |
| APOA5 | 9 | Mar 28, 2026 |
| APOB | 208 | Mar 28, 2026 |
| APOB3'MAR | 1 | Apr 9, 2025 |
| APOC2 | 2 | Apr 9, 2025 |
| APOC4-APOC2 | 2 | Apr 9, 2025 |
| APOE | 2 | Feb 19, 2019 |
| BAG3 | 60 | Mar 28, 2026 |
| CACNA1C | 124 | Mar 28, 2026 |
| CACNA1C-AS1 | 41 | Mar 28, 2026 |
| CACNA1C-AS2 | 3 | Mar 28, 2026 |
| CACNA2D1 | 1 | Feb 19, 2019 |
| CALM2 | 4 | Mar 28, 2026 |
| CALM3 | 5 | Jul 30, 2025 |
| CASQ2 | 17 | Apr 9, 2025 |
| CAV3 | 4 | Feb 19, 2019 |
| CBS | 22 | Mar 28, 2026 |
| CCDC30 | 19 | Mar 28, 2026 |
| CDH2 | 22 | Mar 28, 2026 |
| CDH2-AS1 | 1 | Apr 9, 2025 |
| CEP85L | 5 | Mar 28, 2026 |
| CERNA1 | 1 | Apr 9, 2025 |
| CETP | 4 | Apr 9, 2025 |
| COL1A1 | 38 | Mar 28, 2026 |
| COL2A1 | 1 | Jul 24, 2020 |
| COL3A1 | 32 | Mar 28, 2026 |
| COL5A1 | 63 | Mar 28, 2026 |
| COL5A2 | 34 | Mar 28, 2026 |
| CSRP3 | 27 | Jul 30, 2025 |
| DES | 56 | Mar 28, 2026 |
| DMD | 172 | Mar 28, 2026 |
| DNAAF3 | 3 | Jul 24, 2020 |
| DOLK | 21 | Mar 28, 2026 |
| DSC2 | 59 | Mar 28, 2026 |
| DSCAS | 3 | Apr 9, 2025 |
| DSG2 | 92 | Mar 28, 2026 |
| DSG2-AS1 | 41 | Mar 28, 2026 |
| DSP | 197 | Mar 28, 2026 |
| DSP-AS1 | 6 | Feb 17, 2025 |
| DYNC2LI1 | 3 | Apr 9, 2025 |
| EFEMP2 | 9 | Mar 28, 2026 |
| ELN | 20 | Mar 28, 2026 |
| ELN-AS1 | 2 | Apr 9, 2025 |
| EMD | 13 | Mar 28, 2026 |
| FBLN5 | 8 | Mar 28, 2026 |
| FBN1 | 116 | Mar 28, 2026 |
| FHL1 | 11 | Mar 28, 2026 |
| FHOD3 | 113 | Mar 28, 2026 |
| FKBP14 | 3 | Mar 28, 2026 |
| FKBP14-AS1 | 3 | Mar 28, 2026 |
| FKRP | 27 | Mar 28, 2026 |
| FKTN | 38 | Mar 28, 2026 |
| FLNA | 33 | Mar 28, 2026 |
| FLNC | 286 | Mar 28, 2026 |
| FLNC-AS1 | 92 | Mar 28, 2026 |
| FPGT-TNNI3K | 44 | Mar 28, 2026 |
| GJD2-DT | 20 | Mar 28, 2026 |
| GLA | 26 | Mar 28, 2026 |
| GNB5 | 15 | Mar 28, 2026 |
| GPIHBP1 | 10 | Apr 9, 2025 |
| HABP2 | 4 | Apr 9, 2025 |
| HCN4 | 88 | Mar 28, 2026 |
| JPH2 | 72 | Mar 28, 2026 |
| JUP | 66 | Mar 28, 2026 |
| KCND3 | 1 | Feb 19, 2019 |
| KCNE1 | 8 | Apr 9, 2025 |
| KCNE2 | 5 | Apr 9, 2025 |
| KCNH2 | 92 | Mar 28, 2026 |
| KCNJ2 | 15 | Mar 28, 2026 |
| KCNJ5 | 2 | Aug 2, 2017 |
| KCNQ1 | 93 | Mar 28, 2026 |
| KCNQ1-AS1 | 7 | Mar 28, 2026 |
| KCNQ1OT1 | 4 | Mar 28, 2026 |
| LAMA4 | 1 | Aug 2, 2017 |
| LAMP2 | 25 | Mar 28, 2026 |
| LDB3 | 20 | Jul 24, 2020 |
| LDLR | 202 | Mar 28, 2026 |
| LDLR-AS1 | 2 | Apr 9, 2025 |
| LDLRAP1 | 18 | Mar 28, 2026 |
| LMF1 | 52 | Mar 28, 2026 |
| LMF1-AS1 | 5 | Apr 9, 2025 |
| LMNA | 88 | Mar 28, 2026 |
| LOC101448202 | 10 | Mar 28, 2026 |
| LOC101927055 | 28 | Mar 28, 2026 |
| LOC105370890 | 5 | Apr 9, 2025 |
| LOC105372791 | 5 | Apr 9, 2025 |
| LOC106560211 | 8 | Mar 28, 2026 |
| LOC107988032 | 1 | Apr 9, 2025 |
| LOC108491825 | 1 | Apr 9, 2025 |
| LOC110121269 | 19 | Mar 28, 2026 |
| LOC110121288 | 6 | Aug 2, 2017 |
| LOC110121486 | 1 | Aug 2, 2017 |
| LOC111718493 | 5 | Mar 28, 2026 |
| LOC112577486 | 3 | Apr 9, 2025 |
| LOC113939944 | 2 | Mar 28, 2026 |
| LOC114827850 | 3 | Mar 28, 2026 |
| LOC114827851 | 5 | Jul 24, 2020 |
| LOC126805765 | 3 | Apr 9, 2025 |
| LOC126805877 | 8 | Mar 28, 2026 |
| LOC126806067 | 9 | Mar 28, 2026 |
| LOC126806068 | 14 | Mar 27, 2026 |
| LOC126806420 | 12 | Mar 28, 2026 |
| LOC126806421 | 16 | Mar 28, 2026 |
| LOC126806422 | 21 | Mar 28, 2026 |
| LOC126806423 | 13 | Mar 28, 2026 |
| LOC126806424 | 16 | Mar 28, 2026 |
| LOC126806425 | 20 | Mar 28, 2026 |
| LOC126806426 | 9 | Mar 28, 2026 |
| LOC126806427 | 18 | Mar 28, 2026 |
| LOC126806428 | 12 | Mar 28, 2026 |
| LOC126806429 | 11 | Mar 28, 2026 |
| LOC126806430 | 18 | Mar 28, 2026 |
| LOC126806431 | 10 | Mar 28, 2026 |
| LOC126806432 | 23 | Mar 28, 2026 |
| LOC126806433 | 9 | Mar 28, 2026 |
| LOC126806791 | 1 | Apr 9, 2025 |
| LOC126806792 | 1 | Mar 28, 2026 |
| LOC126807136 | 8 | Mar 28, 2026 |
| LOC126807137 | 9 | Jul 30, 2025 |
| LOC126861896 | 6 | Jul 24, 2020 |
| LOC126861897 | 23 | Mar 28, 2026 |
| LOC126861898 | 20 | Mar 28, 2026 |
| LOC126862124 | 1 | Apr 9, 2025 |
| LOC126862173 | 5 | Apr 9, 2025 |
| LOC126862586 | 2 | Jul 30, 2025 |
| LOC129930343 | 2 | Mar 28, 2026 |
| LOC129930344 | 3 | Apr 9, 2025 |
| LOC129931597 | 2 | Mar 28, 2026 |
| LOC129935182 | 2 | Apr 9, 2025 |
| LOC129935183 | 9 | Mar 27, 2026 |
| LOC129935184 | 2 | Apr 9, 2025 |
| LOC129935185 | 1 | Apr 9, 2025 |
| LOC129935186 | 2 | Mar 28, 2026 |
| LOC129999273 | 3 | Mar 28, 2026 |
| LOC129999659 | 1 | Apr 9, 2025 |
| LOC129999660 | 4 | Mar 28, 2026 |
| LOC130002223 | 1 | Mar 28, 2026 |
| LOC130004109 | 2 | Mar 28, 2026 |
| LOC130007664 | 1 | Jul 24, 2020 |
| LOC130057083 | 1 | Apr 9, 2025 |
| LOC130057222 | 5 | Apr 9, 2025 |
| LOC130058141 | 3 | Apr 9, 2025 |
| LOC130059064 | 1 | Apr 9, 2025 |
| LOC130062340 | 2 | Apr 9, 2025 |
| LOC130062385 | 2 | Apr 9, 2025 |
| LOC130065680 | 1 | Jul 24, 2020 |
| LOX | 6 | Mar 28, 2026 |
| LPL | 23 | Mar 27, 2026 |
| LRRC53 | 2 | Apr 9, 2025 |
| MHRT | 35 | Mar 28, 2026 |
| MIR208B | 1 | Jul 30, 2025 |
| MIR6886 | 1 | Mar 28, 2026 |
| MKRN2 | 1 | Apr 9, 2025 |
| MUS81 | 2 | Apr 9, 2025 |
| MYBPC3 | 299 | Mar 28, 2026 |
| MYH11 | 71 | Mar 28, 2026 |
| MYH6 | 61 | Jul 24, 2020 |
| MYH7 | 249 | Mar 28, 2026 |
| MYL2 | 16 | Mar 28, 2026 |
| MYL3 | 17 | Mar 28, 2026 |
| MYLK | 41 | Mar 28, 2026 |
| MYLK-AS1 | 2 | Mar 28, 2026 |
| MYOZ2 | 1 | Aug 2, 2017 |
| MYPN | 24 | Jul 24, 2020 |
| NDE1 | 34 | Mar 28, 2026 |
| NEXN | 52 | Mar 28, 2026 |
| NKX2-5 | 35 | Mar 28, 2026 |
| NOS1AP | 1 | Aug 2, 2017 |
| NRAP | 143 | Mar 28, 2026 |
| OXTR | 3 | Feb 19, 2019 |
| PCSK9 | 52 | Mar 28, 2026 |
| PKP2 | 82 | Mar 28, 2026 |
| PLN | 5 | Mar 28, 2026 |
| PLOD1 | 27 | Mar 28, 2026 |
| POLR1C | 37 | Mar 28, 2026 |
| PPA2 | 10 | Mar 28, 2026 |
| PPCS | 19 | Mar 28, 2026 |
| PPP1R13L | 48 | Mar 28, 2026 |
| PRKAG2 | 65 | Mar 28, 2026 |
| PRKG1 | 22 | Mar 28, 2026 |
| PTPN11 | 20 | Mar 28, 2026 |
| RAF1 | 49 | Mar 28, 2026 |
| RANGRF | 1 | Feb 19, 2019 |
| RBM20 | 104 | Mar 28, 2026 |
| RIT1 | 9 | Mar 28, 2026 |
| RPL36A-HNRNPH2 | 26 | Mar 28, 2026 |
| RYR2 | 255 | Mar 28, 2026 |
| SCN10A | 14 | Aug 2, 2017 |
| SCN1B | 2 | Jul 24, 2020 |
| SCN5A | 213 | Mar 28, 2026 |
| SGCD | 4 | Jul 24, 2020 |
| SGO1 | 17 | Mar 28, 2026 |
| SGO1-AS1 | 10 | Mar 27, 2026 |
| SKI | 18 | Mar 28, 2026 |
| SLC25A35 | 1 | Feb 19, 2019 |
| SLC2A10 | 17 | Mar 28, 2026 |
| SLC4A3 | 44 | Mar 28, 2026 |
| SMAD2 | 5 | Mar 28, 2026 |
| SMAD3 | 26 | Mar 28, 2026 |
| SMAD4 | 6 | Mar 28, 2026 |
| SNTA1 | 4 | Jul 24, 2020 |
| SRFBP1 | 6 | Mar 28, 2026 |
| SSUH2 | 1 | Feb 19, 2019 |
| TAFAZZIN | 2 | Jul 24, 2020 |
| TBX5 | 17 | Mar 28, 2026 |
| TCAP | 7 | Jul 24, 2020 |
| TECRL | 17 | Mar 28, 2026 |
| TGFB2 | 13 | Mar 28, 2026 |
| TGFB3 | 8 | Mar 28, 2026 |
| TGFBR1 | 15 | Mar 28, 2026 |
| TGFBR2 | 28 | Mar 28, 2026 |
| TMEM43 | 38 | Mar 28, 2026 |
| TNNC1 | 16 | Jul 30, 2025 |
| TNNI3 | 43 | Mar 28, 2026 |
| TNNI3K | 44 | Mar 28, 2026 |
| TNNT2 | 69 | Mar 28, 2026 |
| TPM1 | 65 | Mar 28, 2026 |
| TPM1-AS | 5 | Apr 9, 2025 |
| TRDN | 42 | Mar 28, 2026 |
| TRDN-AS1 | 2 | Mar 28, 2026 |
| TRIM63 | 34 | Mar 28, 2026 |
| TRPM4 | 42 | Mar 28, 2026 |
| TTN | 2254 | Mar 28, 2026 |
| TTN-AS1 | 1174 | Mar 28, 2026 |
| TTR | 21 | Apr 9, 2025 |
| VANGL1 | 3 | Apr 9, 2025 |
| VCL | 57 | Mar 28, 2026 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Amyloidosis, hereditary systemic 1 | 2 tests |
| Andersen Tawil syndrome | 2 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 14 tests |
| Brugada syndrome | 15 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 8 tests |
| Congenital long QT syndrome | 17 tests |
| Ehlers-Danlos syndrome, classic type | 3 tests |
| Ehlers-Danlos syndrome, classic type, 1 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 11 tests |
| Hyperalphalipoproteinemia | 1 test |
| Hypercholesterolemia, familial, 1 | 1 test |
| Hypertriglyceridemia | 1 test |
| Loeys-Dietz syndrome | 6 tests |
| Marfan syndrome | 2 tests |
| Noonan syndrome | 1 test |
| Primary familial dilated cardiomyopathy | 34 tests |
| Primary familial hypertrophic cardiomyopathy | 25 tests |
| Short QT syndrome | 7 tests |
| Sitosterolemia | 1 test |
| Wolff-Parkinson-White pattern | 1 test |