ClinVar Miner

Variants with conflicting interpretations studied for Segawa syndrome, autosomal recessive

Coded as:
Minimum review status of the submission for Segawa syndrome, autosomal recessive: Y axis collection method of the submission for Segawa syndrome, autosomal recessive:
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
71 17 1 16 9 0 4 27

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
Segawa syndrome, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 4 3 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 2 1 0 5 4
likely benign 0 0 2 0 10
benign 0 0 1 3 0

Condition to condition summary #

Total conditions: 8
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
Dystonia 0 5 1 13 7 0 0 20
Segawa syndrome, autosomal recessive 99 8 1 3 1 0 3 8
not specified 0 5 0 7 2 0 0 8
not provided 0 8 1 6 1 0 0 7
Maturity onset diabetes mellitus in young 0 8 0 2 1 0 0 3
Transient Neonatal Diabetes, Dominant/Recessive 0 8 0 2 1 0 0 3
Inborn genetic diseases 0 0 0 0 0 0 1 1
Neonatal diabetes mellitus 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.-9C>T rs5505
NM_001042376.3(INS-IGF2):c.187+942C>T rs3842752
NM_199292.3(TH):c.*277G>A rs3842725
NM_199292.3(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.3(TH):c.1128G>T (p.Ala376=) rs11826260
NM_199292.3(TH):c.1234C>A (p.Gln412Lys) rs121917762
NM_199292.3(TH):c.1263C>G (p.Ala421=) rs199839852
NM_199292.3(TH):c.1293+9C>T rs11564717
NM_199292.3(TH):c.1371G>A (p.Thr457=) rs36097848
NM_199292.3(TH):c.1461C>T (p.Ser487=) rs45538536
NM_199292.3(TH):c.1481C>T (p.Thr494Met) rs45471299
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.1494C>T (p.Asp498=) rs3842724
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.279G>A (p.Ser93=) rs34510659
NM_199292.3(TH):c.303T>C (p.Ala101=) rs7950050
NM_199292.3(TH):c.345G>A (p.Leu115=) rs758016812
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.406-9C>T rs538345855
NM_199292.3(TH):c.456G>A (p.Pro152=) rs370429316
NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716
NM_199292.3(TH):c.941C>T (p.Thr314Met) rs121917764
NM_199292.3(TH):c.990C>T (p.Phe330=) rs76719766

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