ClinVar Miner

Variants from Department of Pathology and Laboratory Medicine,Sinai Health System

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
664 70 414 313 373 1834

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 153 17 173 138 117 598
BRCA1 130 14 87 82 68 381
APC 130 2 33 18 29 212
PKD1 17 5 27 26 58 133
MLH1 68 12 18 9 15 122
MSH2 79 5 16 6 14 120
MSH6 49 5 26 12 18 110
MUTYH 20 3 13 8 5 49
PMS2 10 5 8 6 14 43
PKHD1 2 2 4 2 22 32
LOC105371049, PKD1 2 0 2 1 6 11
PKD2 2 0 1 3 5 11
BRCA1, LOC111589215 0 0 3 1 1 5
MIR6511B1, PKD1 0 0 2 0 0 2
MUTYH, TOE1 0 0 1 0 1 2
BRCA2, LOC106721785 0 0 0 1 0 1
EPCAM 1 0 0 0 0 1
MIR1225, PKD1 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 378 313 373 1064
Hereditary breast and ovarian cancer syndrome 283 31 17 0 0 331
Lynch syndrome 207 27 19 0 0 253
Familial adenomatous polyposis 130 2 0 0 0 132
Autosomal recessive polycystic kidney disease 24 7 0 0 0 31
MYH-associated polyposis 20 3 0 0 0 23
Colon cancer 1 0 0 0 0 1
Ovarian cancer 0 0 0 1 0 1
breast cancer 1 0 0 0 0 1

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