ClinVar Miner

Variants with conflicting interpretations studied for LAMA2-related condition

Minimum review status of the submission for LAMA2-related condition: Collection method of the submission for LAMA2-related condition:
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
28 13 0 6 36 0 1 41

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
LAMA2-related condition likely pathogenic uncertain significance likely benign benign
uncertain significance 1 0 0 0
likely benign 0 35 0 1
benign 0 1 5 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 16 0 6 24 0 1 30
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 4 0 0 24 0 0 24
not specified 0 10 0 2 6 0 0 7

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.3175-25G>A rs2501463 0.00315
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00238
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 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.1308T>G (p.Gly436=) rs41285286 0.00165
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979 0.00165
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00103
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537 0.00080
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00074
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly) rs149165006 0.00061
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.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) rs139159258 0.00050
NM_000426.4(LAMA2):c.4176+9C>T rs117116822 0.00042
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) rs111632017 0.00037
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00034
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00020
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=) rs143078882 0.00011
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199 0.00011
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000426.4(LAMA2):c.6429+10T>G rs770063449 0.00003
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) rs368989339 0.00003
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.5072-10C>A rs552989582 0.00002
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098

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