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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/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx
Organization ID: 1050

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 8383

Gene

GeneSubmissionsLast Updated
ABCC963Mar 9, 2023
ACTA219Jan 31, 2024
ACTA2-AS17Jan 31, 2024
ACTC137Jan 31, 2024
ACTN2116Jan 31, 2024
ANKRD115Dec 23, 2021
ARIH13Jan 30, 2024
ATM262May 3, 2024
BAG323Jan 31, 2024
BARD131Jan 30, 2024
BRCA1219Jan 31, 2024
BRCA2421Jan 31, 2024
BRIP179Jan 31, 2024
C11orf6592May 3, 2024
C2orf4910Mar 3, 2020
CASQ230Mar 9, 2023
CAV325Dec 23, 2021
CDH175Jan 31, 2024
CEP85L11Jan 31, 2024
CHEK265Jan 31, 2024
COL3A182Jan 31, 2024
CRYAB7Mar 3, 2020
CSRP340Mar 9, 2023
CSRP3-AS11Apr 30, 2018
CTF112Mar 9, 2023
DES40Jan 31, 2024
DNAAF32Mar 3, 2020
DNASE1L11Apr 30, 2018
DSC261Jan 31, 2024
DSCAS4Dec 23, 2021
DSG287Jan 31, 2024
DSG2-AS139Jan 31, 2024
DSP169Jan 31, 2024
DSP-AS14Mar 9, 2023
EFEMP28Jan 30, 2024
EMD13Mar 9, 2023
FBN1323Jan 31, 2024
FHL215Mar 3, 2020
FLNC119Jan 31, 2024
FLNC-AS143Jan 30, 2024
FOXE38Jan 30, 2024
GJD2-DT37Jan 31, 2024
GLA22Jan 31, 2024
HOXB131Jan 30, 2024
JUP51Jan 31, 2024
LAMA471Mar 9, 2023
LAMA4-AS11Mar 9, 2023
LAMP223Jan 31, 2024
LDB373Mar 9, 2023
LINC013898Jan 30, 2024
LMNA60Jan 31, 2024
LOC10192705533Jan 30, 2024
LOC1101212699Jan 30, 2024
LOC1101214864Dec 23, 2021
LOC1139399449Jan 31, 2024
LOC1148278508Mar 9, 2023
LOC11482785118Dec 23, 2021
LOC1268057657Mar 9, 2023
LOC1268058776Jan 30, 2024
LOC1268060674Dec 23, 2021
LOC1268060687Dec 23, 2021
LOC12680642012Jan 31, 2024
LOC12680642115Jan 31, 2024
LOC12680642225Jan 31, 2024
LOC12680642319Jan 31, 2024
LOC12680642421Jan 31, 2024
LOC12680642518Jan 31, 2024
LOC12680642610Jan 30, 2024
LOC12680642718Jan 31, 2024
LOC12680642812Jan 30, 2024
LOC1268064299Jan 31, 2024
LOC12680643021Jan 31, 2024
LOC12680643119Jan 31, 2024
LOC12680643313Mar 9, 2023
LOC1268064461Mar 3, 2020
LOC1268067915Mar 9, 2023
LOC1268067921Dec 23, 2021
LOC1268597665Mar 3, 2020
LOC1268607944Mar 9, 2023
LOC12686189611Mar 9, 2023
LOC12686189738Jan 31, 2024
LOC12686189838Jan 31, 2024
LOC1268621247Jan 31, 2024
LOC12686257128Jan 31, 2024
LOC1293909034Jan 31, 2024
LOC1299315973Dec 23, 2021
LOC1299351823Mar 9, 2023
LOC1299351836Jan 31, 2024
LOC1299351842Jan 31, 2024
LOC1299992733Jan 31, 2024
LOC1299996608Jan 31, 2024
LOC1300022232Apr 30, 2018
LOC1300030201Jan 31, 2024
LOC1300041095Dec 23, 2021
LOC1300042431Apr 30, 2018
LOC1300570192Jan 31, 2024
LOC1300573521Dec 23, 2021
LOC1300588788Mar 9, 2023
LOC1300613101Mar 9, 2023
LOC1300623403Jan 30, 2024
LOC1300628995Jan 30, 2024
LOX10Jan 30, 2024
MHRT52Jan 31, 2024
MIR208B1Jan 30, 2024
MLH180Jan 31, 2024
MSH292Jan 31, 2024
MSH6113Jan 31, 2024
MUS811Jan 30, 2024
MYBPC3451Jan 31, 2024
MYH11171Jan 31, 2024
MYH6139Mar 9, 2023
MYH7375Jan 31, 2024
MYL240Jan 31, 2024
MYL330Jan 31, 2024
MYLK138Jan 31, 2024
MYLK-AS114Jan 30, 2024
MYLK235Dec 23, 2021
MYOZ220Dec 23, 2021
NDE175Jan 31, 2024
NEXN86Jan 31, 2024
NOTCH1224Jan 31, 2024
OXTR22Dec 23, 2021
PALB282Jan 31, 2024
PKP291Jan 31, 2024
PLN11Jan 31, 2024
PMS2115Jan 31, 2024
PRKAG271Jan 31, 2024
PRKG19Jan 30, 2024
PTEN27Jan 31, 2024
RAD51C37Jan 31, 2024
RAD51D26Jan 31, 2024
RAD51L3-RFFL26Jan 31, 2024
RBM20112Jan 31, 2024
ROBO434Jan 30, 2024
RPL36A-HNRNPH222Jan 31, 2024
RYR2169Mar 9, 2023
SCN5A61Jan 30, 2024
SGCD11Dec 23, 2021
SLC2A1045Jan 31, 2024
SMAD22Jan 30, 2024
SMAD347Jan 31, 2024
SMAD49Dec 23, 2021
SRFBP110Jan 30, 2024
SSUH23Dec 23, 2021
STK1152Jan 31, 2024
TAFAZZIN6Apr 30, 2018
TCAP13Mar 9, 2023
TGFB227Jan 30, 2024
TGFB321Jan 31, 2024
TGFBR140Jan 31, 2024
TGFBR248Jan 31, 2024
THSD419Jan 30, 2024
TMEM4327Jan 31, 2024
TNNC124Jan 30, 2024
TNNI352Jan 31, 2024
TNNT11Apr 30, 2018
TNNT277Jan 31, 2024
TP5342Jan 31, 2024
TPM152Jan 31, 2024
TTN2058Jan 31, 2024
TTN-AS11229Jan 31, 2024
TTR28Jan 31, 2024
VANGL12Apr 30, 2018
VCL65Jan 31, 2024

Testing in GTR

Disease nameNumber of tests
Angelman syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arterial tortuosity syndrome2 tests
Breast-ovarian cancer, familial, susceptibility to, 13 tests
Breast-ovarian cancer, familial, susceptibility to, 23 tests
Cardiomyopathy1 test
Facioscapulohumeral muscular dystrophy1 test
Familial pancreatic carcinoma1 test
Fragile X syndrome1 test
Hereditary breast ovarian cancer syndrome1 test
Hereditary hemochromatosis1 test
Hypertrophic cardiomyopathy2 tests
Loeys-Dietz syndrome2 tests
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
Marfan syndrome2 tests
Myotonic dystrophy type 21 test
Oculopharyngeal muscular dystrophy1 test
Prader-Willi syndrome1 test
Spinal muscular atrophy1 test
Steinert myotonic dystrophy syndrome1 test
Thrombophilia due to thrombin defect1 test