ClinVar Miner

Variants with conflicting interpretations studied for Myofibrillar Myopathy, Dominant

Coded as:
Minimum review status of the submission for Myofibrillar Myopathy, Dominant: 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
25 42 0 29 22 0 0 47

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 uncertain significance likely benign benign
uncertain significance 0 16 5
likely benign 5 0 24
benign 0 5 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not provided 0 20 0 20 18 0 0 37
not specified 0 10 0 25 13 0 0 37
Cardiovascular phenotype 0 14 0 10 4 0 0 14
MYOT-related condition 0 2 0 1 1 0 0 2
BAG3-related condition 0 0 0 1 0 0 0 1
DNAJB6-related condition 0 0 0 0 1 0 0 1
Developmental cataract 0 0 0 0 1 0 0 1
LDB3-related condition 0 0 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 22 0 0 1 0 0 1
See cases 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00068
NM_058246.4(DNAJB6):c.*934C>T rs886062136 0.00063
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_007078.3(LDB3):c.897-6707G>A rs537660741

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