ClinVar Miner

Variants with conflicting interpretations studied for Limb-Girdle Muscular Dystrophy, Recessive

Coded as:
Minimum review status of the submission for Limb-Girdle Muscular Dystrophy, Recessive: Collection method of the submission for Limb-Girdle Muscular Dystrophy, Recessive:
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
200 156 0 80 102 0 5 178

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
Limb-Girdle Muscular Dystrophy, Recessive pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0 0
uncertain significance 2 3 0 83 44
likely benign 0 0 8 0 71
benign 0 0 0 8 0

Condition to condition summary #

Total conditions: 8
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 95 0 46 81 0 2 125
not specified 0 27 0 56 54 0 0 108
ANO5-Related Muscle Diseases 0 60 0 8 16 0 0 24
Cardiovascular phenotype 0 14 0 2 9 0 0 11
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 26 0 3 1 0 0 4
Tip-toe gait 0 0 0 0 0 0 2 2
POMT1-related condition 0 0 0 0 0 0 1 1
Supraventricular tachycardia 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_213599.3(ANO5):c.*279G>A rs72982058 0.02298
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_000232.5(SGCB):c.*1105A>G rs77404139 0.01061
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_000232.5(SGCB):c.*724C>T rs79282232 0.00971
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00715
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_000232.5(SGCB):c.*2907T>C rs138349341 0.00486
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_000231.3(SGCG):c.*185G>A rs115918628 0.00447
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_213599.3(ANO5):c.*1712T>C rs530413127 0.00216
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_000231.3(SGCG):c.*136T>A rs3751372
NM_000231.3(SGCG):c.*136T>C rs3751372
NM_000337.6(SGCD):c.*4340_*4341dup rs556887176
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_213599.3(ANO5):c.*112_*113del rs5790246
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1] rs397786204
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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