ClinVar Miner

Variants from Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

Location: Turkey  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
128 45 10 0 0 183

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 25 4 1 30
BRCA1 21 6 0 27
ATM 9 3 0 12
CHEK2 6 5 1 12
ATM, C11orf65 5 5 0 10
MUTYH 6 4 0 10
PALB2 2 7 1 10
BRCA1, LOC126862571 7 0 1 8
MSH6 5 1 1 7
BRIP1 3 3 0 6
MLH1 5 0 1 6
MSH2 5 0 1 6
TP53 6 0 0 6
NBN 4 1 0 5
MRE11 3 1 0 4
APC 1 0 2 3
BARD1 2 0 1 3
PTEN 3 0 0 3
RAD50 3 0 0 3
RAD51C 3 0 0 3
RAD51D, RAD51L3-RFFL 2 1 0 3
PMS2 1 1 0 2
XRCC2 0 2 0 2
CDH1 0 1 0 1
EPCAM 1 0 0 1

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Breast carcinoma 97 36 8 141
Ovarian carcinoma 13 3 0 16
Colonic neoplasm 7 2 1 10
Colon cancer 3 1 0 4
Familial cancer of breast 1 2 0 3
Abnormality of the ovary 1 0 1 2
Colonic diverticula 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1
Colorectal polyposis 1 0 0 1
Endometrial carcinoma 1 0 0 1
Familial adenomatous polyposis 2 0 1 0 1
Gastric cancer 0 1 0 1
Hamartomatous polyposis 1 0 0 1
Multifocal breast carcinoma 0 1 0 1
Neoplasm of the skin 1 0 0 1
Ovarian cyst 1 0 0 1
Renal transitional cell carcinoma 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.