ClinVar Miner

Variants with conflicting interpretations studied for Colorectal cancer, susceptibility to, 12

Coded as:
Minimum review status of the submission for Colorectal cancer, susceptibility to, 12: Y axis collection method of the submission for Colorectal cancer, susceptibility to, 12:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1430 442 0 40 62 2 8 106

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Colorectal cancer, susceptibility to, 12 pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 0 1 0 0 0 1
likely pathogenic 2 0 0 0 0 0 0
uncertain significance 5 3 0 55 5 1 0
likely benign 0 0 19 0 24 0 0
benign 0 0 1 15 0 0 0
risk factor 1 0 0 0 0 0 0

Condition to condition summary #

Total conditions: 15
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 131 0 23 29 0 0 50
not provided 0 271 0 19 26 1 1 46
Hereditary cancer-predisposing syndrome 0 164 0 13 18 1 0 32
Colorectal cancer, susceptibility to, 12 1897 65 0 1 13 1 1 16
INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY 0 0 0 0 0 0 4 4
Familial colorectal cancer 0 33 0 0 3 0 0 3
Facial dysmorphism, immunodeficiency, livedo, and short stature 0 2 0 1 0 0 1 2
Anti-PDL1 response 0 0 0 0 0 1 0 1
Colorectal cancer 0 5 0 0 1 0 0 1
Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 0 42 0 0 0 1 0 1
Malignant neoplasm of body of uterus 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 0 0 0 1 1
Neoplasm of the large intestine 0 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Uterine Carcinosarcoma 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 106
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HGVS dbSNP
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) rs5744760
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.1051G>A (p.Val351Ile) rs759414746
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.3(POLE):c.1282G>A (p.Ala428Thr) rs150032060
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.1359+18C>T rs5744775
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1420G>A (p.Val474Ile) rs980578884
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1707C>G (p.Phe569Leu) rs147438050
NM_006231.3(POLE):c.1924-23_1927del rs1064795679
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.2049C>G (p.Tyr683Ter) rs1196356920
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2172G>A (p.Ala724=) rs372240734
NM_006231.3(POLE):c.2174-11G>A rs111570840
NM_006231.3(POLE):c.2174-8G>A rs117409343
NM_006231.3(POLE):c.2320-9G>T rs769834031
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2358C>T (p.Gly786=) rs1278181584
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2682C>T (p.Gly894=) rs757453683
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.2707-9G>A rs1057521516
NM_006231.3(POLE):c.2864+3G>A rs1060500856
NM_006231.3(POLE):c.2865-3C>T rs1203095918
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.2964G>A (p.Ser988=) rs200080353
NM_006231.3(POLE):c.3019G>C (p.Ala1007Pro) rs747692201
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3219G>T (p.Gly1073=) rs760636704
NM_006231.3(POLE):c.3265_3275+15dup rs1555225627
NM_006231.3(POLE):c.3270G>A (p.Thr1090=) rs758258927
NM_006231.3(POLE):c.3275+16A>G rs5744858
NM_006231.3(POLE):c.330+3G>A rs369152225
NM_006231.3(POLE):c.331-3T>C rs1269825866
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.3378+10A>G rs193075152
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3582+6G>A rs113307290
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4370G>T (p.Gly1457Val) rs776534749
NM_006231.3(POLE):c.4371C>T (p.Gly1457=) rs771489059
NM_006231.3(POLE):c.4444+3A>G rs398122515
NM_006231.3(POLE):c.4445-3C>T rs1555222948
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4551T>G (p.Thr1517=) rs1033333357
NM_006231.3(POLE):c.461G>A (p.Arg154Lys) rs769882912
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.4952+17_4952+19dupCGT rs571641918
NM_006231.3(POLE):c.5174-6G>C rs770466844
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.3(POLE):c.5379-5T>C rs761910924
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5678+3G>A rs1060500826
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5679-3C>T rs1555221512
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5811+13C>T rs150195182
NM_006231.3(POLE):c.5811+16T>C rs115381003
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) rs772127913
NM_006231.3(POLE):c.6004+5G>T rs372169366
NM_006231.3(POLE):c.6135C>T (p.Pro2045=) rs368662693
NM_006231.3(POLE):c.6156G>A (p.Gln2052=) rs149841283
NM_006231.3(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6408C>T (p.Gly2136=) rs1057524549
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6597C>A (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.664C>T (p.Arg222Cys) rs767503360
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) rs190813054
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.720+6T>C rs751448342
NM_006231.3(POLE):c.721-9_721-8delGT rs752682384
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.90G>A (p.Ser30=) rs369224511
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.941C>G (p.Ser314Ter) rs869312803

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