ClinVar Miner

Variants with conflicting interpretations studied for Hereditary pancreatitis

Coded as:
Minimum review status of the submission for Hereditary pancreatitis: Y axis collection method of the submission for Hereditary pancreatitis:
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
107 47 8 39 13 18 23 75

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
Hereditary pancreatitis pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor
pathogenic 6 16 16 6 5 0 10 5
likely pathogenic 1 0 2 0 1 0 1 0
uncertain significance 5 2 2 4 6 0 2 0
likely benign 2 1 5 0 13 0 0 1
benign 1 0 4 18 0 1 0 0
association 0 0 0 0 1 0 0 0
risk factor 2 1 1 1 1 0 0 0

Condition to condition summary #

Total conditions: 17
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 provided 0 42 5 21 6 3 16 44
Cystic fibrosis 0 30 0 16 2 0 13 25
Hereditary pancreatitis 195 9 7 9 3 3 5 25
not specified 0 26 2 9 6 2 8 25
ivacaftor response - Efficacy 0 0 0 0 0 11 0 11
Pancreatitis, chronic, susceptibility to 0 0 0 0 0 3 1 3
Congenital bilateral absence of the vas deferens 0 3 0 0 0 0 2 2
Bronchiectasis with or without elevated sweat chloride 1, modifier of 0 0 0 0 0 1 0 1
Duodenal stenosis 0 0 0 1 0 0 0 1
Hereditary pancreatitis; Trypsinogen deficiency 0 1 1 0 0 0 0 1
Hypertrypsinemia, neonatal, susceptibility to 0 0 0 0 0 1 0 1
Lung disease, non-specific 0 1 0 0 0 0 1 1
Pancreatitis 0 0 0 0 0 0 1 1
Pancreatitis, idiopathic, susceptibility to 0 0 0 0 0 1 0 1
Recurrent pancreatitis 0 1 0 0 0 0 1 1
ataluren response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs) rs387906360
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) rs79282516
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4243-35delT rs193922527
NM_000492.3(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs) rs786204693
NM_002769.4(PRSS1):c.121C>T (p.Leu41=) rs369646357
NM_002769.4(PRSS1):c.200+1G>A rs143909348
NM_002769.4(PRSS1):c.235G>A (p.Glu79Lys) rs111033564
NM_002769.4(PRSS1):c.279C>T (p.Ile93=) rs139664510
NM_002769.4(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.4(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.4(PRSS1):c.364C>T (p.Arg122Cys) rs111033568
NM_002769.4(PRSS1):c.365G>A (p.Arg122His) rs111033565
NM_002769.4(PRSS1):c.390C>T (p.Thr130=) rs561097415
NM_002769.4(PRSS1):c.410C>T (p.Thr137Met) rs117497341
NM_002769.4(PRSS1):c.417C>T (p.Cys139=) rs141847266
NM_002769.4(PRSS1):c.453C>T (p.Gly151=) rs147765409
NM_002769.4(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.4(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.4(PRSS1):c.567T>C (p.Leu189=) rs377124851
NM_002769.4(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_002769.4(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002769.4(PRSS1):c.93G>A (p.Glu31=) rs745623963
NM_003122.4(SPINK1):c.*32C>T rs11319
NM_003122.4(SPINK1):c.-22C>T rs190219062
NM_003122.4(SPINK1):c.-41G>A rs79438751
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.174C>T (p.Cys58=) rs35737774
NM_003122.4(SPINK1):c.194G>A (p.Arg65Gln) rs141634296
NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) rs515726208
NM_003122.4(SPINK1):c.200G>A (p.Arg67His) rs35523678
NM_003122.4(SPINK1):c.206C>T (p.Thr69Ile) rs576564400
NM_003122.4(SPINK1):c.231G>A (p.Gly77=) rs34809998
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003122.4(SPINK1):c.56-37T>C rs17107318
NM_003122.4(SPINK1):c.88-23A>T rs199929811
NM_007272.2(CTRC):c.156C>T (p.Asn52=) rs77373944
NM_007272.2(CTRC):c.164G>A (p.Trp55Ter) rs121909294
NM_007272.2(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.2(CTRC):c.285C>T (p.Asp95=) rs41307798
NM_007272.2(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_007272.2(CTRC):c.690G>A (p.Glu230=) rs75971387
NM_007272.2(CTRC):c.703G>A (p.Val235Ile) rs140993290
NM_007272.2(CTRC):c.746C>T (p.Pro249Leu)
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293

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.