ClinVar Miner

Variants from Core Molecular Diagnostic Lab, McGill University Health Centre

Location: Canada — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
8 3 0 1 0 12

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic likely benign total
CFTR 0 1 1 2
HBB, LOC106099062, LOC107133510 1 1 0 2
ABCA4 1 0 0 1
AIMP1 1 0 0 1
AP5Z1 1 0 0 1
BRCA2 0 1 0 1
EGFR 1 0 0 1
ETHE1 1 0 0 1
GJB2 1 0 0 1
PAH 1 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic likely benign total
Cystic fibrosis 0 1 1 2
beta Thalassemia 1 1 0 2
Breast-ovarian cancer, familial 2 0 1 0 1
Deafness, autosomal dominant 3a 1 0 0 1
Ethylmalonic encephalopathy 1 0 0 1
Leukodystrophy, hypomyelinating 3 1 0 0 1
Non-small cell lung cancer 1 0 0 1
Phenylketonuria 1 0 0 1
Spastic paraplegia 48, autosomal recessive 1 0 0 1
Stargardt disease 1 1 0 0 1

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