ClinVar Miner

Variants with conflicting interpretations studied for Limb-girdle muscular dystrophy, type 2F

Coded as:
Minimum review status of the submission for Limb-girdle muscular dystrophy, type 2F: Y axis collection method of the submission for Limb-girdle muscular dystrophy, type 2F:
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
37 14 0 9 11 0 2 20

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
Limb-girdle muscular dystrophy, type 2F pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 1 0
likely benign 0 10 0 2
benign 0 0 7 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
not provided 0 12 0 1 10 0 0 11
not specified 0 14 0 7 1 0 0 8
Delta-sarcoglycanopathy 0 4 0 4 0 0 0 4
Dilated Cardiomyopathy, Dominant 0 4 0 4 0 0 0 4
Limb-Girdle Muscular Dystrophy, Recessive 0 4 0 4 0 0 0 4
Dilated cardiomyopathy 1L 0 0 0 0 0 0 2 2
Cardiomyopathy 0 6 0 1 0 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.756G>A (p.Thr252=) rs756467431
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924

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