ClinVar Miner

Variants with conflicting interpretations studied for Merosin deficient congenital muscular dystrophy

Coded as:
Minimum review status of the submission for Merosin deficient congenital muscular dystrophy: Y axis collection method of the submission for Merosin deficient congenital muscular dystrophy:
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
140 50 4 34 10 0 7 52

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
Merosin deficient congenital muscular dystrophy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 11 3 0 0
likely pathogenic 26 0 3 0 0
uncertain significance 1 2 0 5 4
likely benign 0 0 3 0 1
benign 0 0 0 6 0

Condition to condition summary #

Total conditions: 10
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 provided 0 24 2 11 3 0 2 18
Laminin alpha 2-related dystrophy 0 29 2 10 4 0 1 17
Merosin deficient congenital muscular dystrophy 215 12 4 10 0 0 1 15
not specified 0 22 0 3 7 0 1 11
Congenital Muscular Dystrophy, LAMA2-related 0 13 0 6 0 0 0 6
Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 0 4 0 2 0 0 0 2
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 4 0 0 0 0 1 1
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000426.3(LAMA2):c.112+1G>A rs398123367
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val)
NM_000426.3(LAMA2):c.156C>T (p.Ile52=) rs1140366
NM_000426.3(LAMA2):c.1854_1861dupACGTGTTC (p.Leu621Hisfs) rs202247791
NM_000426.3(LAMA2):c.2037G>C (p.Ala679=) rs398123369
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.2556delT (p.Phe852Leufs) rs750731624
NM_000426.3(LAMA2):c.2749+1G>C rs759555791
NM_000426.3(LAMA2):c.283+1G>A rs200288072
NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577
NM_000426.3(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.3(LAMA2):c.2T>C (p.Met1Thr) rs374403765
NM_000426.3(LAMA2):c.3279C>T (p.Cys1093=) rs371376404
NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) rs2306942
NM_000426.3(LAMA2):c.3623_3645del23 (p.Lys1208Argfs) rs727503992
NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.3(LAMA2):c.396+1G>T rs770617208
NM_000426.3(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) rs17057184
NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.3(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.3(LAMA2):c.5260delG (p.Val1754Terfs) rs794727594
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.5706_5712delCTCATCT (p.Asp1902Glufs) rs398123377
NM_000426.3(LAMA2):c.5866-1G>A rs1064797040
NM_000426.3(LAMA2):c.5866-2A>G rs1554295204
NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6786G>A (p.Ser2262=) rs398123382
NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383
NM_000426.3(LAMA2):c.6992+5G>A rs1221715098
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000426.3(LAMA2):c.7658delC (p.Ser2553Tyrfs) rs1293303410
NM_000426.3(LAMA2):c.7750-1713_7899-2153del4987
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008
NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) rs35313209
NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.8989-12C>G rs144860334
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000426.3(LAMA2):c.9253C>T rs121913571

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