ClinVar Miner

Variants with conflicting interpretations studied for Dysferlinopathy

Coded as:
Minimum review status of the submission for Dysferlinopathy: Y axis collection method of the submission for Dysferlinopathy:
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
102 86 0 58 53 0 8 101

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
Dysferlinopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 0 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 1 2 0 9 1
likely benign 0 3 29 0 1
benign 1 1 16 47 0

Condition to condition summary #

Total conditions: 8
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 44 15 0 0 58
not provided 0 87 0 14 33 0 5 49
Limb-Girdle Muscular Dystrophy, Recessive 0 14 0 6 18 0 0 24
Miyoshi myopathy 0 14 0 6 18 0 0 24
Limb-girdle muscular dystrophy, type 2B 0 30 0 9 1 0 2 12
Miyoshi muscular dystrophy 1 0 10 0 5 0 0 1 6
Dysferlinopathy 283 4 0 1 1 0 0 2
Muscular dystrophy 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_003494.3(DYSF):c.1049C>T (p.Ala350Val) rs115279465
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1192G>A (p.Val398Met) rs144202114
NM_003494.3(DYSF):c.1215C>T (p.Ile405=) rs148697028
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1311G>A (p.Thr437=) rs150093305
NM_003494.3(DYSF):c.1351A>G (p.Met451Val) rs141818764
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1422C>A (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1572C>T (p.Asn524=) rs139495331
NM_003494.3(DYSF):c.1683G>A (p.Glu561=) rs370872013
NM_003494.3(DYSF):c.1731G>A (p.Ala577=) rs35984374
NM_003494.3(DYSF):c.1860C>T (p.Tyr620=) rs35721373
NM_003494.3(DYSF):c.1877T>C (p.Met626Thr) rs141867897
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.2053C>G (p.Leu685Val) rs74423119
NM_003494.3(DYSF):c.2203C>A (p.His735Asn) rs202123283
NM_003494.3(DYSF):c.2367C>T (p.Ser789=) rs560856407
NM_003494.3(DYSF):c.2500A>G (p.Ile834Val) rs34671418
NM_003494.3(DYSF):c.2568G>A (p.Leu856=) rs191337920
NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) rs35884879
NM_003494.3(DYSF):c.2619G>A (p.Gly873=) rs530181166
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2763G>A (p.Ser921=) rs148902254
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.2802G>A (p.Pro934=) rs34836829
NM_003494.3(DYSF):c.2810+8G>A rs371686795
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.3065G>A (p.Arg1022Gln) rs34211915
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3191_3196dupCGGAGG (p.Glu1065_Gly1066insAlaGlu) rs398123779
NM_003494.3(DYSF):c.3213C>T (p.Tyr1071=) rs150355624
NM_003494.3(DYSF):c.3249C>T (p.Tyr1083=) rs201477760
NM_003494.3(DYSF):c.3283C>T (p.Arg1095Cys) rs141536854
NM_003494.3(DYSF):c.3287G>A (p.Arg1096His) rs59915619
NM_003494.3(DYSF):c.3289C>T (p.Arg1097Cys) rs147483765
NM_003494.3(DYSF):c.3349-10G>A rs116733194
NM_003494.3(DYSF):c.339delA (p.Ala115Profs) rs886042379
NM_003494.3(DYSF):c.3444T>A (p.Tyr1148Ter) rs758944159
NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) rs766341386
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3624C>G (p.Ile1208Met) rs148858485
NM_003494.3(DYSF):c.3624C>T (p.Ile1208=) rs148858485
NM_003494.3(DYSF):c.3702+9G>T rs191746041
NM_003494.3(DYSF):c.3702T>C (p.Tyr1234=) rs141720146
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003494.3(DYSF):c.3844-4C>G rs555206040
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.3914C>A (p.Thr1305Lys) rs116426399
NM_003494.3(DYSF):c.394C>T (p.Leu132=) rs886043009
NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.3992G>T (p.Arg1331Leu) rs61742872
NM_003494.3(DYSF):c.4052A>G (p.Asn1351Ser) rs139529811
NM_003494.3(DYSF):c.4068C>T (p.Ser1356=) rs2303607
NM_003494.3(DYSF):c.407delC (p.Pro136Leufs) rs886043342
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.4200C>T (p.Pro1400=) rs142769942
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.426C>T (p.Ser142=) rs115390288
NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) rs76576806
NM_003494.3(DYSF):c.4335C>T (p.Asp1445=) rs61746816
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4376A>G (p.Asp1459Gly) rs61738567
NM_003494.3(DYSF):c.4425C>T (p.Ile1475=) rs148055736
NM_003494.3(DYSF):c.4434G>A (p.Trp1478Ter) rs766016391
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.4510G>A (p.Val1504Ile) rs143895253
NM_003494.3(DYSF):c.4512C>G (p.Val1504=) rs142483266
NM_003494.3(DYSF):c.4577A>C rs76086153
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.4820T>C (p.Ile1607Thr) rs146384562
NM_003494.3(DYSF):c.4866G>T (p.Thr1622=) rs142301132
NM_003494.3(DYSF):c.4893C>T (p.Phe1631=) rs151276652
NM_003494.3(DYSF):c.4941C>A (p.Leu1647=) rs141476432
NM_003494.3(DYSF):c.4977C>T (p.Ile1659=) rs149087116
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5078G>A rs779987458
NM_003494.3(DYSF):c.509C>A (p.Ala170Glu) rs34999029
NM_003494.3(DYSF):c.5149C>T (p.Arg1717Trp) rs148541407
NM_003494.3(DYSF):c.5361C>T (p.Val1787=) rs145143725
NM_003494.3(DYSF):c.5386C>T (p.Arg1796Trp) rs139879284
NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) rs115013641
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.594C>T (p.Pro198=) rs376293526
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003494.3(DYSF):c.6057-9C>T rs201070766
NM_003494.3(DYSF):c.6057G>A (p.Arg2019=) rs143762717
NM_003494.3(DYSF):c.6063C>T (p.Pro2021=) rs147263499
NM_003494.3(DYSF):c.676G>A (p.Val226Met) rs150345121
NM_003494.3(DYSF):c.894C>T (p.Leu298=) rs140809078

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