ClinVar Miner

Variants with conflicting interpretations studied for Mucopolysaccharidosis type VI

Coded as:
Minimum review status of the submission for Mucopolysaccharidosis type VI: Y axis collection method of the submission for Mucopolysaccharidosis type VI:
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
259 23 0 15 4 0 11 29

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
Mucopolysaccharidosis type VI pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 3 0 0
likely pathogenic 8 0 1 0 0
uncertain significance 8 3 0 2 0
likely benign 0 0 0 0 6
benign 0 0 2 4 0

Condition to condition summary #

Total conditions: 7
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 provided 0 10 0 9 3 0 6 17
Mucopolysaccharidosis type VI 280 19 0 8 0 0 4 12
not specified 0 4 0 4 1 0 0 5
Mucopolysaccharidosis, type vi, severe 0 2 0 1 0 0 2 3
Metachromatic leukodystrophy 0 2 0 0 0 0 1 1
Mucopolysaccharidosis, type vi, intermediate 0 0 0 0 0 0 1 1
Mucopolysaccharidosis, type vi, mild 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448

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