ClinVar Miner

Variants from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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
101 99 1091 508 499 2298

Gene and significance breakdown #

Total genes and gene combinations: 71
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 9 18 291 136 167 621
BRCA2 34 7 48 40 22 151
MYBPC3 15 12 54 16 3 100
RYR2 0 1 41 21 30 93
FBN1 9 18 29 18 13 87
BRCA1 21 2 29 15 10 77
NOTCH1 0 0 30 20 25 75
MYH6 0 0 27 19 19 65
MYH7 1 6 44 9 2 62
DSP 0 4 33 15 5 57
ACTN2 0 0 36 10 8 54
LAMA4 0 0 21 13 11 45
RBM20 0 1 15 10 12 38
MYLK 0 0 21 10 5 36
ABCC9 0 1 10 11 13 35
NEXN 0 0 27 5 3 35
LDB3 0 0 19 5 10 34
DSG2 0 0 19 7 5 31
PRKAG2 1 0 15 6 7 29
PKP2 2 3 11 9 3 28
MYH11, NDE1 0 0 9 9 6 24
DSC2 0 1 11 4 6 22
VCL 0 1 12 2 7 22
MYH11 0 0 7 7 7 21
COL3A1 0 1 8 2 9 20
CSRP3 0 2 12 4 2 20
MHRT, MYH7 0 1 17 1 1 20
TNNT2 1 1 14 3 1 20
LMNA 1 2 7 3 6 19
MYLK2 0 0 8 6 3 17
CAV3 0 0 9 4 3 16
ACTC1, LOC101928174 1 1 7 5 1 15
JUP 0 0 4 5 6 15
TMEM43 0 0 6 4 5 15
LOC101927055, TTN 0 1 5 1 7 14
SLC2A10 0 0 6 2 5 13
DES 0 0 6 4 2 12
MYL2 0 2 6 3 1 12
TTR 2 0 6 1 3 12
GLA, RPL36A-HNRNPH2 1 2 6 1 1 11
MYL3 0 1 7 2 1 11
TGFB2 0 0 6 3 2 11
TGFBR1 0 0 5 5 1 11
TGFBR2 0 1 3 4 3 11
TNNI3 1 2 6 2 0 11
TPM1 0 1 8 1 0 10
ANKRD1 0 0 4 3 2 9
CASQ2 0 0 4 0 5 9
FHL2 0 0 2 3 4 9
LOC114827851, MYH6 0 0 3 0 6 9
MYOZ2 0 0 4 1 4 9
EMD 0 0 5 2 1 8
LAMP2 0 0 7 0 1 8
SGCD 0 0 0 4 4 8
SMAD3 0 1 5 1 0 7
TNNC1 0 0 5 2 0 7
CEP85L, PLN 1 1 3 1 0 6
TCAP 0 0 3 1 2 6
ACTA2 0 2 1 1 1 5
CTF1 0 0 3 0 2 5
SMAD4 0 0 3 1 1 5
TAZ 1 0 2 2 0 5
TGFB3 0 1 2 2 0 5
CRYAB 0 0 3 0 1 4
LDB3, LOC110121486 0 0 4 0 0 4
CAV3, SSUH2 0 0 2 1 0 3
LOC114827850, MYL2 0 1 2 0 0 3
CASQ2, VANGL1 0 0 0 0 2 2
DSC2, DSCAS 0 0 1 0 1 2
DNAAF3, TNNI3, TNNT1 0 0 1 0 0 1
DNASE1L1, TAZ 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cardiomyopathy 37 66 878 367 389 1737
Thoracic aortic aneurysm and aortic dissection 9 24 135 85 78 331
Breast and/or ovarian cancer 50 8 72 47 27 204
not specified 0 0 5 8 5 18
Hereditary breast and ovarian cancer syndrome 9 0 4 1 0 14
Breast-ovarian cancer, familial 1 0 1 0 0 0 1

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