ClinVar Miner

Variants with conflicting interpretations studied for Miyoshi myopathy

Coded as:
Minimum review status of the submission for Miyoshi myopathy: Y axis collection method of the submission for Miyoshi myopathy:
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
0 146 0 20 34 0 2 54

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
Miyoshi myopathy likely pathogenic likely benign benign
uncertain significance 2 31 16
likely benign 0 0 16
benign 0 4 0

Condition to condition summary #

Total conditions: 6
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 7 0 20 26 0 0 46
Dysferlinopathy 0 14 0 6 18 0 0 24
not provided 0 48 0 2 4 0 2 8
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 0 3 0 0 4 0 0 4
Limb-girdle muscular dystrophy, type 2B 0 2 0 0 1 0 0 1
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_003494.3(DYSF):c.1053T>G (p.Pro351=) rs199955501
NM_003494.3(DYSF):c.1180+11C>T rs35982795
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1351A>G (p.Met451Val) rs141818764
NM_003494.3(DYSF):c.1522+15C>G rs76402294
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1890G>A (p.Pro630=) rs115849497
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.202G>C (p.Val68Leu) rs114986640
NM_003494.3(DYSF):c.2163-11G>A rs200853014
NM_003494.3(DYSF):c.2203C>A (p.His735Asn) rs202123283
NM_003494.3(DYSF):c.222G>A (p.Thr74=) rs200957354
NM_003494.3(DYSF):c.2280C>T (p.Leu760=) rs116204385
NM_003494.3(DYSF):c.2355+14G>A rs141170955
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2583A>T (p.Ser861=) rs2288355
NM_003494.3(DYSF):c.2926-15C>T rs148732505
NM_003494.3(DYSF):c.2948A>C (p.Lys983Thr) rs34061568
NM_003494.3(DYSF):c.3057C>T (p.Pro1019=) rs143475751
NM_003494.3(DYSF):c.3060G>A (p.Pro1020=) rs398123778
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.3972C>T (p.Asn1324=) rs11558179
NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) rs2303606
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4443C>T (p.Phe1481=) rs544993852
NM_003494.3(DYSF):c.4504C>T (p.Leu1502=) rs7573406
NM_003494.3(DYSF):c.4731G>A (p.Glu1577=) rs62145939
NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) rs185596534
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.565C>G (p.Leu189Val) rs13407355
NM_003494.3(DYSF):c.570T>C (p.Pro190=) rs35392229
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.6057G>A (p.Arg2019=) rs143762717
NM_003494.3(DYSF):c.6204+15C>T rs2559082
NM_003494.3(DYSF):c.792+11T>C rs13428076
NM_003494.3(DYSF):c.855+4T>C rs11903960
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356
NM_213599.2(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.2(ANO5):c.2139C>T (p.Thr713=) rs767479331
NM_213599.2(ANO5):c.2259A>G (p.Ser753=) rs61746201
NM_213599.2(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.2(ANO5):c.364-8delT rs146983312
NM_213599.2(ANO5):c.369G>A (p.Ser123=) rs199888040
NM_213599.2(ANO5):c.720G>T (p.Leu240=) rs147121216
NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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