ClinVar Miner

Variants with conflicting interpretations studied for Neonatal insulin-dependent diabetes mellitus

Coded as:
Minimum review status of the submission for Neonatal insulin-dependent diabetes mellitus: Collection method of the submission for Neonatal insulin-dependent diabetes mellitus:
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
8 6 0 12 12 3 2 28

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
Neonatal insulin-dependent diabetes mellitus pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 1 4
likely benign 0 0 3 0 1
benign 0 0 5 11 0
likely risk allele 1 0 1 0 0
uncertain risk allele 0 0 1 0 0

Condition to condition summary #

Total conditions: 7
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
not specified 0 3 0 4 7 1 0 12
Transient Neonatal Diabetes, Dominant/Recessive 0 2 0 5 4 1 0 10
not provided 0 7 0 5 4 1 1 10
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 0 1 0 2 1 0 0 3
Cardiovascular phenotype 0 0 0 1 1 0 0 2
GATA4-related disorder 0 0 0 1 0 0 0 1
Neonatal hypoglycemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000207.3(INS):c.188-220C>T rs561372758 0.00113
NM_178161.3(PTF1A):c.162C>T (p.Ser54=) rs117678424 0.00110
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_000207.3(INS):c.188-96G>A rs565314634 0.00016
NM_000207.3(INS):c.*28G>A rs778107057 0.00010
NM_000207.3(INS):c.*2C>T rs200306755 0.00006
NM_000207.3(INS):c.*42C>T rs376867722 0.00006
NM_000207.3(INS):c.66C>T (p.Ala22=) rs375371953 0.00003
NM_000207.3(INS):c.-18+22G>A rs1051986248 0.00001
NM_000207.3(INS):c.-17-70G>A rs1554920985
NM_000207.3(INS):c.-18+21C>T rs568856178
NM_000207.3(INS):c.-18+3C>G rs886048112
NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del) rs1554920854
NM_000207.3(INS):c.153A>C (p.Thr51=) rs773789432
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.188-3C>A rs886048111
NM_000207.3(INS):c.292A>T (p.Ser98Cys) rs1252051752
NM_000207.3(INS):c.320ACT[1] (p.Tyr108del) rs1554920552
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671

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