ClinVar Miner

Variants with conflicting interpretations studied for Transient Neonatal Diabetes, Dominant

Coded as:
Minimum review status of the submission for Transient Neonatal Diabetes, Dominant: Y axis collection method of the submission for Transient Neonatal Diabetes, Dominant:
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
0 80 0 31 16 1 0 46

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
Transient Neonatal Diabetes, Dominant uncertain significance likely benign benign drug response risk factor
uncertain significance 0 4 0 0 0
likely benign 15 0 22 1 1
benign 0 11 0 1 1

Condition to condition summary #

Total conditions: 18
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 5 0 30 7 0 0 37
not provided 0 6 0 7 4 0 0 11
Islet cell hyperplasia 0 0 0 6 0 0 0 6
Hyperinsulinism, Dominant/Recessive 0 121 0 2 3 0 0 5
Maturity onset diabetes mellitus in young 0 45 0 2 3 0 0 5
Permanent neonatal diabetes mellitus 0 78 0 2 3 0 0 5
Transient Neonatal Diabetes, Dominant 119 2 0 2 3 0 0 5
Persistent hyperinsulinemic hypoglycemia of infancy 0 5 0 0 4 0 0 4
Diabetes mellitus type 2 0 0 0 0 1 1 0 2
Monogenic diabetes 0 0 0 2 0 0 0 2
Exercise stress response, impaired, association with 0 0 0 0 0 1 0 1
Neonatal diabetes mellitus 0 2 0 0 1 0 0 1
glibenclamide response - Efficacy 0 0 0 0 0 1 0 1
gliclazide response - Efficacy 0 0 0 0 0 1 0 1
glimepiride response - Efficacy 0 0 0 0 0 1 0 1
glipizide response - Efficacy 0 0 0 0 0 1 0 1
gliquidone response - Efficacy 0 0 0 0 0 1 0 1
sulfonamides, urea derivatives response - Efficacy 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000352.4(ABCC8):c.-19A>G rs193922394
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.4(ABCC8):c.-8G>T rs200091822
NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.4(ABCC8):c.1572G>A (p.Thr524Thr=) rs61748766
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.4(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.4(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.2041-12C>T rs201419039
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.4(ABCC8):c.291-3C>T rs764107333
NM_000352.4(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.4(ABCC8):c.3329+6C>T rs113873225
NM_000352.4(ABCC8):c.3399+13G>A rs182340196
NM_000352.4(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.4(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.4(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000352.4(ABCC8):c.579+14C>T rs2301703
NM_000525.3(KCNJ11):c.-154G>T rs539975714
NM_000525.3(KCNJ11):c.-498T>C rs529946415
NM_000525.3(KCNJ11):c.-559G>C rs547932593
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) rs5214
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257

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