ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R

Coded as:
Minimum review status of the submission for Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R: Y axis collection method of the submission for Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R:
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
59 39 0 16 15 0 5 31

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
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 3 0 4 0
likely benign 0 0 7 0 2
benign 1 0 4 11 0

Condition to condition summary #

Total conditions: 12
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 39 0 2 10 0 2 14
not specified 0 25 0 11 3 0 0 14
Myofibrillar myopathy 1 0 3 0 9 2 0 0 11
Dilated Cardiomyopathy, Dominant 0 3 0 7 2 0 0 9
Myofibrillar Myopathy, Dominant 0 3 0 7 2 0 0 9
Scapuloperoneal weakness 0 3 0 7 2 0 0 9
Cardiomyopathy 0 5 0 3 1 0 1 5
Cardiovascular phenotype 0 15 0 3 1 0 0 4
Dilated cardiomyopathy 1I 0 0 0 1 0 0 1 2
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Myofibrillar myopathy 0 0 0 0 0 0 1 1
Primary familial hypertrophic cardiomyopathy 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1158C>T (p.Arg386=) rs774323736
NM_001927.3(DES):c.1180G>A (p.Val394Met) rs776786349
NM_001927.3(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.3(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.3(DES):c.1257C>T (p.Pro419=) rs143154982
NM_001927.3(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.3(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.3(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.3(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.3(DES):c.295C>G (p.Gln99Glu) rs794728992
NM_001927.3(DES):c.324G>A (p.Glu108=) rs138677215
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.3(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.3(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.3(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.3(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.3(DES):c.656C>T (p.Thr219Ile) rs144901249
NM_001927.3(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.3(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.3(DES):c.822C>T (p.Leu274=) rs763599850
NM_001927.3(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001927.3(DES):c.897+4_897+5delGG rs397516699
NM_001927.3(DES):c.924C>T (p.Asn308=) rs578191306
NM_001927.3(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001927.3(DES):c.999C>T (p.Cys333=) rs1157722667
NM_001927.3(DES):c.99C>T (p.Pro33=) rs774006810

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