ClinVar Miner

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

Coded as:
Minimum review status of the submission for Limb-girdle muscular dystrophy, type 2B: Y axis collection method of the submission for Limb-girdle muscular dystrophy, type 2B:
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
104 93 0 33 8 1 14 50

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 2B pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 14 0 1 1 0
likely pathogenic 26 0 6 0 0 1
uncertain significance 1 5 0 4 0 0
likely benign 0 1 4 0 3 0

Condition to condition summary #

Total conditions: 21
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 60 0 23 3 0 10 36
Miyoshi muscular dystrophy 1 0 48 0 14 0 0 0 14
Dysferlinopathy 0 30 0 9 1 0 2 12
Limb-girdle muscular dystrophy, type 2B 211 26 0 10 0 0 0 10
not specified 0 5 0 2 4 0 4 10
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 4 0 3 0 0 0 3
Alpha-1-antitrypsin deficiency 0 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 0 1 0 0 0 1
Autosomal recessive non-syndromic sensorineural deafness type DFNB 0 0 0 1 0 0 0 1
Burn-McKeown syndrome 0 0 0 1 0 0 0 1
Congenital disorders of glycosylation type II 0 0 0 1 0 0 0 1
Coronary heart disease 7 0 0 0 0 0 1 0 1
Creatine deficiency, X-linked 0 0 0 1 0 0 0 1
Glycogen storage disease, type II 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1
Limb-Girdle Muscular Dystrophy, Recessive 0 2 0 0 1 0 0 1
Miyoshi myopathy 0 2 0 0 1 0 0 1
Multiple endocrine neoplasia, type 2a 0 0 0 1 0 0 0 1
Muscular dystrophy 0 0 0 0 0 0 1 1
Myopathy, distal, with anterior tibial onset 0 3 0 1 0 0 0 1
Nonaka myopathy 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
Multiple alleles
NM_001130987.1(DYSF):c.1274_1276+4dup rs1553530017
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1053T>G (p.Pro351=) rs199955501
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1398-1G>A rs398123768
NM_003494.3(DYSF):c.1639-6T>A rs886039573
NM_003494.3(DYSF):c.1852G>A (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.206T>G (p.Val69Gly) rs886042878
NM_003494.3(DYSF):c.2163-2A>G rs747289205
NM_003494.3(DYSF):c.2355+1G>A rs151317754
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2652C>T (p.Asn884=) rs398123775
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2810+1G>A rs199954546
NM_003494.3(DYSF):c.2811-2A>C rs886043964
NM_003494.3(DYSF):c.2974T>C (p.Trp992Arg) rs750028300
NM_003494.3(DYSF):c.3032-17G>T rs3764971
NM_003494.3(DYSF):c.3041A>G (p.Tyr1014Cys) rs756328339
NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) rs398123778
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003494.3(DYSF):c.339delA (p.Ala115Profs) rs886042379
NM_003494.3(DYSF):c.3423G>A (p.Thr1141=) rs576460368
NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) rs766341386
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.401C>T (p.Pro134Leu) rs773837400
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.4408C>T (p.Gln1470Ter) rs886044411
NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) rs766016391
NM_003494.3(DYSF):c.4876G>A (p.Val1626Ile) rs147056383
NM_003494.3(DYSF):c.4886+1249G>T rs886042110
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.5083C>T (p.Gln1695Ter) rs886044422
NM_003494.3(DYSF):c.5302C>T (p.Arg1768Trp) rs746243052
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5444G>T (p.Cys1815Phe) rs886042584
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_003494.3(DYSF):c.5668-7G>A rs753861836
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003494.3(DYSF):c.6124C>T (p.Arg2042Cys) rs121908955
NM_003494.3(DYSF):c.790G>T (p.Glu264Ter) rs794727851
NM_003494.3(DYSF):c.895G>A (p.Gly299Arg) rs121908963

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.