ClinVar Miner

Variants with conflicting interpretations studied for Persistent hyperinsulinemic hypoglycemia of infancy

Coded as:
Minimum review status of the submission for Persistent hyperinsulinemic hypoglycemia of infancy: Y axis collection method of the submission for Persistent hyperinsulinemic hypoglycemia of infancy:
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
151 20 0 23 6 0 6 35

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
Persistent hyperinsulinemic hypoglycemia of infancy pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 10 3 0
likely pathogenic 19 0 1 0
uncertain significance 3 1 0 6
benign 0 0 0 4

Condition to condition summary #

Total conditions: 10
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
Persistent hyperinsulinemic hypoglycemia of infancy 185 9 0 10 0 0 2 12
not provided 0 12 0 8 0 0 2 10
Familial hyperinsulinism 0 5 0 7 0 0 0 7
not specified 0 7 0 4 2 0 1 7
Permanent neonatal diabetes mellitus 0 5 0 1 4 0 0 5
Hyperinsulinism, Dominant/Recessive 0 5 0 0 4 0 0 4
Transient Neonatal Diabetes, Dominant 0 5 0 0 4 0 0 4
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2 0 3 0 2 0 0 0 2
Diabetes mellitus type 2 0 1 0 0 1 0 0 1
Monogenic diabetes 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1672-20A>G
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.4(ABCC8):c.1879del (p.His627Metfs) rs764613146
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.2222+1G>T rs1554923999
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2695-1G>C rs1057517420
NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.3130_3149del rs886041392
NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.4(ABCC8):c.3399+13G>A rs182340196
NM_000352.4(ABCC8):c.3574del (p.Asp1192Metfs) rs1057516317
NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.4119+1G>A rs797045211
NM_000352.4(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.4(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.4(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.1(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257

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