ClinVar Miner

Variants from University of Washington Department of Laboratory Medicine,University of Washington

Location: United States — 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 risk factor total
138 54 179 769 13 1 1153

Gene and significance breakdown #

Total genes and gene combinations: 68
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
CTNNA1 0 1 1 97 0 0 99
MSH6 13 4 46 34 1 0 98
MSH2 17 12 31 29 1 0 90
MLH1 19 9 30 24 0 0 82
APC 6 0 10 63 0 1 80
BRIP1 3 2 2 50 0 0 57
PTEN 3 3 0 50 0 0 56
BRCA1 12 1 3 36 1 0 53
PMS2 5 2 21 6 4 0 38
BRCA2 16 0 0 20 1 0 37
BARD1 0 1 0 32 0 0 33
CHEK2 4 4 3 21 0 0 32
ATR 0 0 3 25 0 0 28
ATM 1 7 0 17 0 0 25
PALB2 15 0 0 9 1 0 25
SMAD4 2 1 0 22 0 0 25
NBN 1 0 0 19 0 0 20
GEN1 0 0 2 15 0 0 17
CDH1 2 1 3 10 0 0 16
ATM, C11orf65 1 1 2 10 0 0 14
PPM1D 0 0 0 14 0 0 14
BMPR1A 4 0 2 7 0 0 13
PIK3CA 0 0 0 13 0 0 13
POLE 0 0 3 9 1 0 13
RAD51C 0 1 1 11 0 0 13
BAP1 1 0 0 10 0 0 11
MRE11 0 0 3 8 0 0 11
ABRAXAS1 0 0 1 9 0 0 10
TP53 4 2 1 4 0 0 10
XRCC2 0 0 3 7 0 0 10
RAD51B 0 0 2 7 0 0 9
BLM 0 0 0 8 0 0 8
BRCC3 0 0 0 8 0 0 8
SDHB 0 0 0 7 0 0 7
STK11 0 0 1 6 0 0 7
CHEK1 0 0 1 4 0 0 5
EPCAM 0 0 0 5 0 0 5
MUTYH 3 1 0 1 0 0 5
POLD1 0 0 0 5 0 0 5
BRIP1, LOC110120932 0 0 0 4 0 0 4
GREM1 0 0 1 3 0 0 4
LOC107303340, VHL 1 0 0 3 0 0 4
BRCA1, LOC110485084, LOC111589216 0 0 0 3 0 0 3
CDKN2A 1 0 1 1 0 0 3
GALNT12 0 0 1 2 0 0 3
BRCA1, LOC111589215 0 0 0 2 0 0 2
CTNNA1, LOC105379194 0 0 0 2 0 0 2
CTNNA1, LRRTM2 0 0 0 2 0 0 2
MEN1 0 0 0 1 1 0 2
RAD51D, RAD51L3-RFFL 0 0 1 1 0 0 2
RET 1 0 0 1 0 0 2
SDHD 0 0 0 2 0 0 2
AXIN2 0 0 0 1 0 0 1
BRCA1, LOC110485084 0 0 0 1 0 0 1
CDK4 0 0 0 1 0 0 1
CDKN1C 0 0 0 0 1 0 1
COL3A1 0 0 0 0 1 0 1
ENG 0 1 0 0 0 0 1
EPCAM, STPG4 0 0 0 1 0 0 1
HOXB13 1 0 0 0 0 0 1
KIT 0 0 0 1 0 0 1
LOC110006317, LOC110006318, STK11 1 0 0 0 0 0 1
PRSS1, TRB 0 0 0 1 0 0 1
RAD50 0 0 0 1 0 0 1
RPS24 1 0 0 0 0 0 1
SDHC 0 0 0 1 0 0 1
TP53, WRAP53 0 0 0 1 0 0 1
VHL 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hereditary cancer-predisposing syndrome 39 15 34 693 0 0 781
Lynch syndrome 54 27 128 41 6 0 256
Breast-ovarian cancer, familial 1 27 0 3 0 0 0 30
Colorectal cancer, susceptibility to 6 0 10 1 0 1 18
Breast and colorectal cancer, susceptibility to 4 4 3 0 0 0 11
Familial cancer of breast 0 0 1 7 1 0 9
Hereditary breast and ovarian cancer syndrome 1 1 0 4 2 0 8
Cowden syndrome 3 3 0 0 0 0 6
Colorectal cancer, susceptibility to, 12 0 0 0 4 1 0 5
Li-Fraumeni syndrome 1 0 0 3 0 0 4
Familial multiple polyposis syndrome 0 0 0 3 0 0 3
Breast-ovarian cancer, familial 3 0 1 0 1 0 0 2
Hereditary diffuse gastric cancer 0 0 0 2 0 0 2
Juvenile polyposis syndrome 0 1 0 1 0 0 2
MYH-associated polyposis 0 1 0 1 0 0 2
Peutz-Jeghers syndrome 0 0 0 2 0 0 2
Ataxia-telangiectasia syndrome 1 0 0 0 0 0 1
Breast cancer, susceptibility to 0 0 0 1 0 0 1
Breast-ovarian cancer, familial 4 0 0 0 1 0 0 1
Cowden syndrome 1 0 0 0 1 0 0 1
Diamond-Blackfan anemia 3 1 0 0 0 0 0 1
Ehlers-Danlos syndrome 0 0 0 0 1 0 1
Familial colorectal cancer 0 0 0 1 0 0 1
Gastrointestinal stroma tumor 0 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 1 0 0 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 1
Multiple endocrine neoplasia, type 1 0 0 0 0 1 0 1
Oligodontia-colorectal cancer syndrome 0 0 0 1 0 0 1
Prostate cancer susceptibility 1 0 0 0 0 0 1

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