ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar myopathy, ZASP-related

Coded as:
Minimum review status of the submission for Myofibrillar myopathy, ZASP-related: Y axis collection method of the submission for Myofibrillar myopathy, ZASP-related:
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
81 52 0 9 21 0 7 34

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, ZASP-related pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 4 0 0
uncertain significance 3 1 0 18 4
likely benign 0 0 1 0 6
benign 0 0 2 4 0

Condition to condition summary #

Total conditions: 14
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 25 0 8 16 0 1 24
not provided 0 27 0 4 8 0 1 12
Cardiovascular phenotype 0 10 0 5 3 0 1 9
Cardiomyopathy 0 5 0 3 1 0 4 8
Dilated cardiomyopathy 1C 0 0 0 0 1 0 3 4
Familial hypertrophic cardiomyopathy 24 0 0 0 0 0 0 2 2
Myofibrillar myopathy, ZASP-related 162 3 0 1 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 1 0 0 1
Dilated Cardiomyopathy, Dominant 0 25 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 5 0 0 0 0 1 1
Left ventricular noncompaction 3 0 0 0 0 0 0 1 1
Left ventricular noncompaction cardiomyopathy 0 25 0 1 0 0 0 1
Myofibrillar Myopathy, Dominant 0 25 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080116.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001080116.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
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.494C>T (p.Ala165Val) rs121908334
NM_001080116.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080116.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_007078.3(LDB3):c.-24+8T>C rs2803558
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118
NM_007078.3(LDB3):c.1296_1319CCCTGCCCCTGCCTACACCCCCTC[1] (p.434_441APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627
NM_007078.3(LDB3):c.1752G>C (p.Leu584=)
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134
NM_007078.3(LDB3):c.2124G>A (p.Pro708=) rs759812655
NM_007078.3(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400
NM_007078.3(LDB3):c.689+3861C>T rs754704023
NM_007078.3(LDB3):c.690-4617G>A rs754174632
NM_007078.3(LDB3):c.690-4842G>A rs113445294
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165

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