ClinVar Miner

Variants with conflicting interpretations studied for Congenital Muscular Dystrophy, LAMA2-related

Coded as:
Minimum review status of the submission for Congenital Muscular Dystrophy, LAMA2-related: Y axis collection method of the submission for Congenital Muscular Dystrophy, LAMA2-related:
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
57 24 0 17 30 0 0 47

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, LAMA2-related likely benign benign
uncertain significance 27 13
likely benign 0 17

Condition to condition summary #

Total conditions: 4
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 10 0 17 27 0 0 44
Laminin alpha 2-related dystrophy 0 15 0 12 22 0 0 34
not provided 0 15 0 2 5 0 0 7
Merosin deficient congenital muscular dystrophy 0 13 0 6 0 0 0 6

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.1491T>C (p.Cys497=) rs2306220
NM_000426.3(LAMA2):c.1533T>C (p.Asn511=) rs9492266
NM_000426.3(LAMA2):c.156C>T (p.Ile52=) rs1140366
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1930C>G (p.His644Asp) rs35879899
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.255C>T (p.Ile85=) rs142083777
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.2857-13C>T rs201188972
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) rs2306942
NM_000426.3(LAMA2):c.3429C>A (p.Ile1143=) rs200646230
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) rs17057184
NM_000426.3(LAMA2):c.4959+6G>T rs148060790
NM_000426.3(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222
NM_000426.3(LAMA2):c.5072-6delC rs398123376
NM_000426.3(LAMA2):c.5469C>T (p.Ser1823=) rs753886576
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407
NM_000426.3(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199
NM_000426.3(LAMA2):c.6234A>G (p.Lys2078=) rs56920166
NM_000426.3(LAMA2):c.6237G>A (p.Thr2079=) rs2297738
NM_000426.3(LAMA2):c.6274+4C>T rs73775410
NM_000426.3(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7479C>T (p.Ser2493=) rs368989339
NM_000426.3(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979
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.8124T>A (p.Gly2708=) rs34997144
NM_000426.3(LAMA2):c.8223G>A (p.Thr2741=) rs150596964
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929
NM_000426.3(LAMA2):c.8691A>G (p.Arg2897=) rs2228599
NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751
NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) rs79374915
NM_000426.3(LAMA2):c.8989-12C>G rs144860334
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599

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