ClinVar Miner

Variants with conflicting interpretations studied for Limb-girdle muscular dystrophy-dystroglycanopathy, type C5

Coded as:
Minimum review status of the submission for Limb-girdle muscular dystrophy-dystroglycanopathy, type C5: Y axis collection method of the submission for Limb-girdle muscular dystrophy-dystroglycanopathy, type C5:
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 16 0 13 5 0 6 22

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-dystroglycanopathy, type C5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 1 1
likely pathogenic 9 0 1 0 0
uncertain significance 3 1 0 0 0
likely benign 0 0 4 0 1
benign 0 0 1 1 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 15 0 7 2 0 2 11
Walker-Warburg congenital muscular dystrophy 0 11 0 4 1 0 4 9
not specified 0 4 0 2 2 0 1 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 68 3 0 3 0 0 1 4
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 1 0 1 0 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5 0 1 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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