ClinVar Miner

Variants in gene SPINK1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
67 7 0 7 2 1 6 14

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.

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

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
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.1A>T (p.Met1Leu) rs369163833
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_003122.4(SPINK1):c.88-23A>T rs199929811

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