ClinVar Miner

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

Coded as:
Minimum review status of the submission for Limb-girdle muscular dystrophy, type 2D: Y axis collection method of the submission for Limb-girdle muscular dystrophy, type 2D:
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
78 24 0 17 10 0 6 32

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 2D pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 1 0 0
likely pathogenic 11 0 2 0 0
uncertain significance 0 4 0 4 1
likely benign 0 0 5 0 3
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 4
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 23 0 14 5 0 4 23
Limb-girdle muscular dystrophy, type 2D 119 5 0 9 0 0 1 10
not specified 0 3 0 4 5 0 0 9
Sarcoglycanopathies 0 1 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000023.4(SGCA):c.*10C>G rs60300808
NM_000023.4(SGCA):c.-31T>C rs199527818
NM_000023.4(SGCA):c.-8G>A rs149296410
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644
NM_000023.4(SGCA):c.158-11G>A rs140261054
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630
NM_000023.4(SGCA):c.313-10C>T rs569744194
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191

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