ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar Myopathy, Dominant

Coded as:
Minimum review status of the submission for Myofibrillar Myopathy, Dominant: Y axis collection method of the submission for Myofibrillar Myopathy, Dominant:
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
0 126 0 34 27 0 2 57

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, Dominant pathogenic uncertain significance likely benign benign
uncertain significance 0 0 11 3
likely benign 2 15 0 32
benign 0 0 2 0

Condition to condition summary #

Total conditions: 18
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 26 0 30 21 0 0 51
Cardiovascular phenotype 0 21 0 11 3 0 0 14
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 8 0 9 5 0 0 14
not provided 0 21 0 9 5 0 0 14
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 3 0 7 2 0 0 9
Cardiomyopathy 0 7 0 4 2 0 0 6
Myofibrillar myopathy, ZASP-related 0 20 0 4 2 0 0 6
Limb-girdle muscular dystrophy, type 1E 0 1 0 2 2 0 0 4
Myofibrillar myopathy 3 0 3 0 4 0 0 0 4
Dilated cardiomyopathy 1II 0 3 0 0 1 0 1 2
Limb-girdle muscular dystrophy, type 1A; Myofibrillar myopathy 3 0 0 0 2 0 0 0 2
Myofibrillar myopathy 0 0 0 0 1 0 1 2
Myofibrillar myopathy, BAG3-related 0 3 0 2 0 0 0 2
Congenital cataract 0 0 0 0 1 0 0 1
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 26 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_001080114.1(LDB3):c.345-15G>A rs113445294
NM_001080114.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080114.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.322-14C>T rs754704023
NM_001080116.1(LDB3):c.456G>A (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.548+7G>A rs754174632
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001885.2(CRYAB):c.-21C>T rs376222434
NM_001885.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233
NM_001885.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001927.3(DES):c.-44G>A rs184826121
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
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.665G>A (p.Arg222His) rs367961979
NM_001927.3(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.3(DES):c.897+4_897+5delGG rs397516699
NM_001927.3(DES):c.924C>T (p.Asn308=) rs578191306
NM_004281.3(BAG3):c.-17G>A rs200388926
NM_004281.3(BAG3):c.1240G>A (p.Glu414Lys) rs117749531
NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) rs34656239
NM_004281.3(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004281.3(BAG3):c.181-15C>T rs397516882
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.231G>A (p.Pro77=) rs143752613
NM_004281.3(BAG3):c.415C>T (p.Arg139Trp) rs556465096
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.465A>G (p.Ala155=) rs775151738
NM_004281.3(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.3(BAG3):c.474_476dupGGC (p.Ala160_Gln161insAla) rs139438727
NM_004281.3(BAG3):c.549C>G (p.Ser183=) rs112929734
NM_004281.3(BAG3):c.606G>T (p.Pro202=) rs74157690
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004281.3(BAG3):c.855G>A (p.Thr285=) rs147259596
NM_004281.3(BAG3):c.888C>T (p.His296=) rs139399890
NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) rs78439745
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_007078.2(LDB3):c.-114T>C rs2803558
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_058246.3(DNAJB6):c.279C>T (p.Phe93=) rs149278319
NM_058246.3(DNAJB6):c.860G>A (p.Arg287Gln) rs368078459
NM_058246.3(DNAJB6):c.899-6C>T rs78337193
NM_058246.3(DNAJB6):c.948G>A (p.Ser316=) rs565527346
NM_058246.3(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468

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