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 |
not provided |
total |
349
|
86
|
814
|
496
|
210
|
4
|
1953
|
Gene and significance breakdown #
Total genes and gene combinations: 73
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BRCA2
|
129
|
9
|
186
|
108
|
53
|
0 |
484
|
BRCA1
|
76
|
7
|
90
|
73
|
31
|
0 |
277
|
ATM
|
19
|
16
|
68
|
43
|
17
|
0 |
162
|
PALB2
|
32
|
13
|
41
|
22
|
10
|
0 |
118
|
CHEK2
|
11
|
8
|
50
|
10
|
3
|
0 |
82
|
ATM, C11orf65
|
9
|
7
|
32
|
22
|
7
|
0 |
77
|
BARD1
|
11
|
3
|
34
|
18
|
5
|
3
|
73
|
CDH1
|
6
|
1
|
26
|
28
|
7
|
0 |
68
|
MSH6
|
3
|
1
|
43
|
17
|
3
|
0 |
67
|
BRIP1
|
8
|
6
|
31
|
14
|
5
|
1
|
62
|
MSH2
|
2
|
0 |
36
|
20
|
1
|
0 |
59
|
PMS2
|
4
|
2
|
25
|
20
|
7
|
0 |
58
|
NBN
|
2
|
1
|
23
|
15
|
2
|
0 |
43
|
BRCA1, LOC126862571
|
19
|
0 |
15
|
2
|
6
|
0 |
42
|
RAD51D, RAD51L3-RFFL
|
3
|
2
|
14
|
11
|
1
|
0 |
31
|
STK11
|
0 |
0 |
8
|
20
|
3
|
0 |
31
|
TP53
|
5
|
2
|
12
|
7
|
4
|
0 |
30
|
AOPEP, FANCC
|
1
|
1
|
14
|
6
|
5
|
0 |
27
|
MLH1
|
0 |
0 |
10
|
10
|
4
|
0 |
24
|
RAD51C
|
2
|
0 |
8
|
3
|
4
|
0 |
17
|
FANCC
|
2
|
0 |
4
|
3
|
3
|
0 |
12
|
PTEN
|
1
|
1
|
4
|
3
|
3
|
0 |
12
|
POLE
|
0 |
0 |
7
|
0 |
3
|
0 |
10
|
APC
|
1
|
0 |
2
|
4
|
0 |
0 |
7
|
POLD1
|
0 |
0 |
4
|
2
|
1
|
0 |
7
|
CDKN2B
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
LOC130062899, STK11
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
BMPR1A
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
BRCA1, LOC111589215
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
LOC129390903, RAD51C
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
SLX4
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
AXIN2
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
FANCB
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
KIF1B
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
LOC126860438, NBN
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
MC1R
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
MUTYH
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
RECQL4
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
RET
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
SMAD4
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
TSC1
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
ABCB11
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ABRAXAS1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATR
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CASR
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
DICER1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
EXT1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCA
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FANCD2, LOC107303338
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCE
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FANCF
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FANCI
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC106736614, RET
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129933707, MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130009266, POLE
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC130061310, RAD51C
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MLH3
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
NF2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PAH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
POLH, POLR1C
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
PRKDC
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
RAD50
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
SDHB
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
SDHC
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SLC12A3
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TERT
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TINF2
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TSHR
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TYR
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
WRAP53
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
WRN
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Department of Pathology and Laboratory Medicine, Sinai Health System
|
297
|
36
|
783
|
486
|
178
|
0 |
1780
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
50
|
42
|
0 |
0 |
0 |
0 |
92
|
Center of Medical Genetics and Primary Health Care
|
1
|
0 |
24
|
10
|
36
|
0 |
71
|
Institute of Biochemistry And Biotechnology, University of Veterinary and Animal Sciences, Lahore, Pakistan
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
King Laboratory, University of Washington
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Faculty of Pharmacy, Ain Shams University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, University Hospital Center Zagreb
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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