ClinVar Miner

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

Location: United States  Primary collection method: curation
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
140 73 177 7395 14 1 7796

Gene and significance breakdown #

Total genes and gene combinations: 87
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BRCA2 16 2 1 4353 1 0 4372
BRCA1 10 1 3 1720 1 0 1734
BRCA1, LOC126862571 3 0 0 595 0 0 598
MSH6 13 8 46 34 1 0 102
CTNNA1 0 1 1 98 0 0 100
MSH2 17 17 30 30 1 0 94
MLH1 19 9 30 24 0 0 82
APC 6 0 9 64 0 1 80
BRIP1 3 2 2 50 0 0 57
PTEN 3 3 0 51 0 0 57
PMS2 6 4 20 7 4 0 41
BARD1 0 1 0 32 0 0 33
CHEK2 4 5 2 20 0 0 31
ATR 0 0 3 25 0 0 28
SMAD4 2 1 0 22 1 0 26
ATM 1 8 0 16 0 0 25
PALB2 15 0 0 9 1 0 25
NBN 1 0 0 19 0 0 20
CDH1 2 1 4 10 0 0 17
GEN1 0 0 2 15 0 0 17
ATM, C11orf65 1 1 2 10 0 0 14
POLE 0 0 3 10 1 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
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 2 3 0 0 10
XRCC2 0 0 3 7 0 0 10
RAD51B 0 0 1 8 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 5 0 0 6
CHEK1 0 0 1 4 0 0 5
EPCAM 0 0 0 5 0 0 5
MUTYH 3 1 0 1 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
POLD1 0 0 0 3 0 0 3
BRCA1, LOC111589215 0 0 0 2 0 0 2
CTNNA1, LRRTM2 0 0 0 2 0 0 2
MEN1 0 0 0 1 1 0 2
PALLD 0 0 0 2 0 0 2
RAD51D, RAD51L3-RFFL 0 0 1 1 0 0 2
RET 1 0 0 1 0 0 2
ATM, LOC128772356 0 0 0 1 0 0 1
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
CHEK2, LOC130067165 0 0 0 1 0 0 1
COL3A1 0 0 0 0 1 0 1
CTNNA1, LOC129994750 0 0 0 1 0 0 1
DIPK1A, RPL5 0 1 0 0 0 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, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 0 0 0 0 1
LOC125371447, STK11 0 0 0 1 0 0 1
LOC126861339, SDHD 0 0 0 1 0 0 1
LOC126862483, TP53, WRAP53 0 0 0 1 0 0 1
LOC129933707, MSH6 0 0 0 1 0 0 1
LOC129997916, PMS2 0 0 0 1 0 0 1
LOC130009266, POLE 0 0 0 1 0 0 1
LOC130064985, POLD1 0 0 0 1 0 0 1
LOC130064986, POLD1 0 0 0 1 0 0 1
MTOR 0 0 0 1 0 0 1
NFKB1 0 1 0 0 0 0 1
NIPBL 0 1 0 0 0 0 1
NLRP3 0 1 0 0 0 0 1
POT1 0 0 0 1 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
SDHA 0 0 0 1 0 0 1
SDHC 0 0 0 1 0 0 1
SDHD 0 0 0 1 0 0 1
TSC1 0 0 0 1 0 0 1
VHL 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 45
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hereditary cancer-predisposing syndrome 39 15 34 7305 0 0 7393
Lynch syndrome 53 27 125 41 6 0 252
Breast-ovarian cancer, familial, susceptibility to, 1 27 0 4 1 0 0 32
Colorectal cancer, susceptibility to 6 0 9 2 0 1 18
Breast and colorectal cancer, susceptibility to 4 5 2 0 0 0 11
Familial cancer of breast 0 0 1 7 1 0 9
Hereditary breast ovarian cancer syndrome 1 1 0 4 2 0 8
Colorectal cancer, susceptibility to, 12 0 0 0 6 1 0 7
Cowden syndrome 3 3 0 0 0 0 6
Lynch syndrome 1 1 4 0 0 0 0 5
Lynch syndrome 5 0 4 0 1 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 1 2 0 1 0 0 4
Hereditary nonpolyposis colon cancer 0 1 1 2 0 0 4
Li-Fraumeni syndrome 1 0 1 2 0 0 4
Lynch syndrome 4 1 2 0 1 0 0 4
Familial multiple polyposis syndrome 0 0 0 3 0 0 3
Hereditary diffuse gastric adenocarcinoma 0 0 0 3 0 0 3
Ataxia-telangiectasia syndrome 1 1 0 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 0 1 0 0 2
Cowden syndrome 1 0 0 0 2 0 0 2
Familial adenomatous polyposis 2 0 1 0 1 0 0 2
Generalized juvenile polyposis/juvenile polyposis coli 0 1 0 1 0 0 2
Pancreatic cancer, susceptibility to, 1 0 0 0 2 0 0 2
Peutz-Jeghers syndrome 0 0 0 2 0 0 2
Breast cancer, susceptibility to 0 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 0 1 0 0 1
CHEK2-Related Cancer Susceptibility 0 1 0 0 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome 0 1 0 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 0 1
Diamond-Blackfan anemia 3 1 0 0 0 0 0 1
Diamond-Blackfan anemia 6 0 1 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 stromal tumor 0 0 0 1 0 0 1
IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 1
Immunodeficiency, common variable, 12 0 1 0 0 0 0 1
Isolated focal cortical dysplasia type II 0 0 0 1 0 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 0 0 1 0 1
Multiple endocrine neoplasia, type 1 0 0 0 0 1 0 1
Oligodontia-cancer predisposition syndrome 0 0 0 1 0 0 1
Paragangliomas 5 0 0 0 1 0 0 1
Prostate cancer susceptibility 1 0 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 0 1
Tuberous sclerosis 1 0 0 0 1 0 0 1
Tumor predisposition syndrome 3 0 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.