ClinVar Miner

Variants with conflicting interpretations studied for Walker-Warburg congenital muscular dystrophy

Coded as:
Minimum review status of the submission for Walker-Warburg congenital muscular dystrophy: Y axis collection method of the submission for Walker-Warburg congenital muscular dystrophy:
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
120 108 0 27 11 0 7 42

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
Walker-Warburg congenital muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 1 0 0
likely pathogenic 3 0 3 0 0
uncertain significance 3 1 0 8 5
likely benign 0 0 0 0 10
benign 0 0 3 5 0

Condition to condition summary #

Total conditions: 10
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 specified 0 7 0 15 8 0 1 24
not provided 0 65 0 8 7 0 4 19
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 11 0 4 1 0 3 8
Fukuyama congenital muscular dystrophy 0 6 0 3 2 0 1 6
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 0 3 0 3 0 0 0 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 5 0 1 0 0 1 2
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 0 3 0 1 0 0 0 1
Dilated Cardiomyopathy, Recessive 0 3 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy 0 1 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
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.266C>T (p.Pro89Leu) rs770711331
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960
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.970G>T (p.Glu324Ter) rs886044183

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