ClinVar Miner

Variants with conflicting interpretations studied for Congenital muscular dystrophy due to partial LAMA2 deficiency

Coded as:
Minimum review status of the submission for Congenital muscular dystrophy due to partial LAMA2 deficiency: Collection method of the submission for Congenital muscular dystrophy due to partial LAMA2 deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
84 79 0 34 68 0 2 103

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
Congenital muscular dystrophy due to partial LAMA2 deficiency pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0
likely pathogenic 1 0 0 0
uncertain significance 0 0 65 9
likely benign 0 3 0 19
benign 0 0 14 0

Condition to condition summary #

Total conditions: 3
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 74 0 23 56 0 2 81
not specified 0 31 0 32 35 0 0 67
LAMA2-related disorder 0 6 0 0 24 0 0 24

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02608
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02027
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.01938
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=) rs56920166 0.01481
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01170
NM_000426.4(LAMA2):c.1206+11C>T rs115007959 0.00915
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00850
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00835
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00531
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00497
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00348
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257 0.00301
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00258
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00224
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=) rs141190803 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00169
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979 0.00165
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00162
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000426.4(LAMA2):c.1782+14T>C rs191215452 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_000426.4(LAMA2):c.2856+13G>A rs149487202 0.00121
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00115
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00092
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537 0.00080
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929 0.00074
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00068
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00067
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=) rs141101234 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000426.4(LAMA2):c.4176+9C>T rs117116822 0.00040
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00037
NM_000426.4(LAMA2):c.2857-13C>T rs201188972 0.00036
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) rs111632017 0.00036
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199 0.00021
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) rs142126511 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386 0.00019
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00018
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala) rs138732723 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=) rs200646230 0.00013
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=) rs145295628 0.00013
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222 0.00012
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=) rs199904029 0.00011
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) rs150596964 0.00009
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751 0.00006
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=) rs199931560 0.00006
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00005
NM_000426.4(LAMA2):c.9212-11G>A rs770088527 0.00004
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=) rs781341719 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000426.4(LAMA2):c.6429+10T>G rs770063449 0.00003
NM_000426.4(LAMA2):c.5072-10C>A rs552989582 0.00002
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=) rs748650667 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=) rs754850670 0.00001
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His) rs3778142 0.00001
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) rs368989339 0.00001
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000426.4(LAMA2):c.8245-2A>G rs914395925
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753

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