ClinVar Miner

Variants from Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
62 38 486 469 306 1352

Gene and significance breakdown #

Total genes and gene combinations: 46
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 19 2 58 81 34 187
APC 0 0 47 25 47 118
ATM 4 4 46 33 14 101
BRCA1 12 1 27 40 14 93
MSH6 2 1 33 24 18 78
NF1 1 3 23 28 12 67
PMS2 2 1 29 12 16 60
ATM, C11orf65 2 1 26 17 9 55
MSH2 0 0 17 13 21 51
PALB2 4 1 20 23 3 51
MUTYH 4 5 17 15 8 49
BRIP1 1 3 18 15 10 47
NBN 1 0 23 19 2 45
CDH1 0 1 15 17 6 39
STK11 0 0 7 26 4 37
CHEK2 2 5 18 9 2 36
MLH1 0 2 12 6 15 35
BARD1 2 1 16 8 5 32
POLD1 0 0 0 2 24 26
RAD51C 2 2 7 12 1 24
TP53 1 1 5 8 5 20
BRCA1, LOC126862571 3 0 6 8 1 18
POLE 0 0 2 2 11 15
RAD51D, RAD51L3-RFFL 0 2 5 7 0 14
GALNT12 0 0 2 2 4 8
KLLN, PTEN 0 0 1 4 0 5
PTEN 0 1 0 2 2 5
BMPR1A 0 0 0 1 3 4
KLLN, LOC130004273, PTEN 0 0 0 3 0 3
LOC130004273, MLDHR, PTEN 0 0 3 0 0 3
SMAD4 0 0 0 2 1 3
AXIN2 0 0 0 0 2 2
BLM 0 0 0 1 1 2
DHFR, MSH3 0 0 0 0 2 2
GREM1 0 0 0 1 1 2
LOC126860438, NBN 0 1 0 1 0 2
LOC130062899, STK11 0 0 1 1 0 2
RNF43 0 0 0 0 2 2
RPS20 0 0 0 0 2 2
FBXO11, MSH6 0 0 0 0 1 1
KLLN, LOC130004273, MLDHR, PTEN 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC130004273, PTEN 0 0 0 1 0 1
LOC130009266, POLE 0 0 0 0 1 1
MSH3 0 0 0 0 1 1
TSC1 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 3
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 40 32 395 372 256 1095
Hereditary breast ovarian cancer syndrome 21 6 94 103 50 274
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1 0 2

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.