ClinVar Miner

Variants from Division of Medical Genetics, University of Washington

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
35 5 79 0 0 119

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ATM 3 0 13 16
CHEK2 1 1 10 12
BRCA2 5 0 5 10
ATM, C11orf65 1 0 8 9
BRCA1 5 0 3 8
MSH2 1 0 7 8
PALB2 2 0 6 8
MSH6 2 0 3 5
TP53 0 0 5 5
APC 1 0 3 4
PMS2 1 0 3 4
BRIP1 1 0 2 3
MLH1 1 0 2 3
MUTYH 1 1 1 3
POLE 0 0 3 3
RAD51C 0 1 2 3
FANCM 2 0 0 2
MYBPC3 2 0 0 2
APOB 1 0 0 1
CDH1 0 0 1 1
DSG2 0 1 0 1
LDLR 1 0 0 1
PTEN 0 0 1 1
RAD51D, RAD51L3-RFFL 0 0 1 1
RYR1 1 0 0 1
SDHB 1 0 0 1
SDHD 1 0 0 1
TMEM127 1 0 0 1
TSC1 0 1 0 1

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance total
Familial cancer of breast 10 1 38 49
Breast-ovarian cancer, familial, susceptibility to, 2 5 0 5 10
Breast-ovarian cancer, familial, susceptibility to, 1 5 0 3 8
Lynch syndrome 1 1 0 7 8
Li-Fraumeni syndrome 1 0 0 5 5
Lynch syndrome 5 2 0 3 5
Familial adenomatous polyposis 1 1 0 3 4
Lynch syndrome 4 1 0 3 4
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 2 3
Colorectal cancer, hereditary nonpolyposis, type 2 1 0 2 3
Colorectal cancer, susceptibility to, 12 0 0 3 3
Familial adenomatous polyposis 2 1 1 1 3
Hypertrophic cardiomyopathy 4 2 0 0 2
Arrhythmogenic right ventricular dysplasia 10 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 1 1
Cowden syndrome 1 0 0 1 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hypercholesterolemia, familial, 1 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 1
Ovarian neoplasm 0 0 1 1
Paragangliomas 1 1 0 0 1
Paragangliomas 4 1 0 0 1
Pheochromocytoma 1 0 0 1
Tuberous sclerosis 1 0 1 0 1

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