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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: 3721

Gene

GeneSubmissionsLast Updated
ABCC947Mar 3, 2020
ACTA212Mar 3, 2020
ACTA2-AS15Mar 3, 2020
ACTC119Mar 3, 2020
ACTN288Mar 3, 2020
ANKRD112Mar 3, 2020
BRCA1100Mar 3, 2020
BRCA2176Mar 3, 2020
CASQ221Mar 3, 2020
CAV324Mar 3, 2020
CDH11Mar 3, 2020
CEP85L7Mar 3, 2020
COL3A139Mar 3, 2020
CRYAB7Mar 3, 2020
CSRP330Mar 3, 2020
CSRP3-AS11Apr 30, 2018
CTF17Mar 3, 2020
DES19Mar 3, 2020
DNAAF32Mar 3, 2020
DNASE1L11Apr 30, 2018
DSC235Mar 3, 2020
DSCAS3Mar 3, 2020
DSG246Mar 3, 2020
DSG2-AS118Mar 3, 2020
DSP94Mar 3, 2020
EMD8Apr 30, 2018
FBN1165Mar 3, 2020
FHL215Mar 3, 2020
GLA11Apr 30, 2018
JUP20Mar 3, 2020
LAMA466Mar 3, 2020
LAMP28Apr 30, 2018
LDB357Mar 3, 2020
LMNA33Mar 3, 2020
LOC10192705521Mar 3, 2020
LOC10192817419Mar 3, 2020
LOC1101214864Apr 30, 2018
LOC1139399443Mar 3, 2020
LOC1148278505Mar 3, 2020
LOC11482785117Mar 3, 2020
MHRT30Mar 3, 2020
MSH21Mar 3, 2020
MYBPC3206Mar 3, 2020
MYH1186Mar 3, 2020
MYH6104Mar 3, 2020
MYH7174Mar 3, 2020
MYL222Mar 3, 2020
MYL318Mar 3, 2020
MYLK70Mar 3, 2020
MYLK-AS16Mar 3, 2020
MYLK231Mar 3, 2020
MYOZ217Mar 3, 2020
NDE142Mar 3, 2020
NEXN52Mar 3, 2020
NOTCH1135Mar 3, 2020
PALB22Mar 3, 2020
PKP253Mar 3, 2020
PLN7Mar 3, 2020
PRKAG246Mar 3, 2020
RBM2058Mar 3, 2020
RPL36A-HNRNPH211Apr 30, 2018
RYR2132Mar 3, 2020
SGCD10Mar 3, 2020
SLC2A1021Mar 3, 2020
SMAD317Mar 3, 2020
SMAD46Mar 3, 2020
SSUH23Apr 30, 2018
TAZ6Apr 30, 2018
TCAP10Mar 3, 2020
TGFB217Mar 3, 2020
TGFB310Mar 3, 2020
TGFBR125Mar 3, 2020
TGFBR222Mar 3, 2020
TMEM4321Mar 3, 2020
TNNC114Mar 3, 2020
TNNI328Mar 3, 2020
TNNT11Apr 30, 2018
TNNT242Mar 3, 2020
TP531Mar 3, 2020
TPM120Mar 3, 2020
TTN1024Mar 3, 2020
TTN-AS1581Mar 3, 2020
TTR17Mar 3, 2020
VANGL12Apr 30, 2018
VCL36Mar 3, 2020

Condition

NameSubmissionsLast Updated
Breast and/or ovarian cancer253Mar 3, 2020
Breast-ovarian cancer, familial 11Mar 9, 2015
Cardiomyopathy2813Mar 3, 2020
Familial thoracic aortic aneurysm and aortic dissection625Mar 3, 2020
Hereditary breast and ovarian cancer syndrome11Aug 28, 2017
not specified18Aug 28, 2017

Testing in GTR

Disease nameNumber of tests
Angelman syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arterial tortuosity syndrome2 tests
BREAST CANCER-RELATED REGULATOR OF TP531 test
Breast-ovarian cancer, familial 16 tests
Breast-ovarian cancer, familial 26 tests
Cardiomyopathy1 test
Catecholaminergic polymorphic ventricular tachycardia2 tests
Facioscapulohumeral muscular dystrophy 1a1 test
Familial cancer of breast1 test
Fragile X syndrome1 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary cancer-predisposing 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
Primary dilated cardiomyopathy2 tests
Spinal muscular atrophy1 test
Steinert myotonic dystrophy syndrome1 test
Thrombophilia due to thrombin defect1 test
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