ClinVar Miner

Variants with conflicting interpretations studied for Hereditary pancreatitis

Coded as:
Minimum review status of the submission for Hereditary pancreatitis: 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
271 29 0 14 12 3 14 38

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 risk factor
pathogenic 0 3 7 2 4 2 1
likely pathogenic 3 0 3 0 1 1 0
uncertain significance 7 3 0 5 7 1 1
likely benign 2 0 5 0 11 0 0
benign 4 1 7 11 0 2 0
association 2 1 1 0 2 0 1
risk factor 1 0 1 0 0 1 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Hereditary pancreatitis 271 29 0 14 12 3 14 38

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_003122.4(SPINK1):c.-22C>T rs190219062
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.194+2T>C rs148954387
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.33C>T (p.Ala11=) rs147454311
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003122.4(SPINK1):c.75C>T (p.Ser25=) rs35006579
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209
NM_007272.3(CTRC):c.230+7G>A rs0
NM_007272.3(CTRC):c.41-5C>A rs781284605
NM_007272.3(CTRC):c.493+3G>A rs772436044
NM_007272.3(CTRC):c.494-13A>G rs762842599
NM_007272.3(CTRC):c.494-6C>T rs111790169
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293

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