Core Molecular Diagnostic Lab (McGill University Health Centre), CMDL

General information

Core Molecular Diagnostic Lab, CMDL
McGill University Health Centre
1001 Decarie Boulevard
Montreal
Quebec
Canada - H4A 3J1
https://muhc.ca/laboratoires/profile/clinical-laboratories
Organization ID: 506763

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 21

Gene

GeneSubmissionsLast Updated
ABCA41Nov 20, 2018
AIMP11Nov 16, 2018
AP5Z11Nov 13, 2018
BRCA21Nov 20, 2018
CDH29Sep 4, 2019
CFTR2Jul 9, 2019
EGFR1Jul 11, 2019
EGFR-AS11Jul 11, 2019
ETHE11Feb 12, 2019
GJB21Nov 13, 2018
HBB2Nov 20, 2018
LOC1060990622Nov 20, 2018
LOC1071335102Nov 20, 2018
PAH1Nov 13, 2018

Condition

NameSubmissionsLast Updated
Axon pathfinding, cardiac, ocular and genital defects9Sep 4, 2019
Breast-ovarian cancer, familial 21Nov 20, 2018
Corpus callosum, agenesis of9Sep 4, 2019
Cystic fibrosis2Jul 9, 2019
Deafness, autosomal dominant 3a1Nov 13, 2018
Ethylmalonic encephalopathy1Feb 12, 2019
Hypomyelinating leukodystrophy 31Nov 16, 2018
Non-small cell lung cancer1Jul 11, 2019
Phenylketonuria1Nov 13, 2018
Spastic paraplegia 48, autosomal recessive1Nov 13, 2018
Stargardt disease 11Nov 20, 2018
beta Thalassemia2Nov 20, 2018
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