ClinVar Miner

Variants in gene LAMB1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
716 95 0 18 16 0 0 33

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.

uncertain significance likely benign benign
uncertain significance 0 14 3
likely benign 14 0 18
benign 3 18 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=) rs113725211 0.00487
NM_002291.3(LAMB1):c.1370-18C>T rs79590733 0.00436
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=) rs35082294 0.00416
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_002291.3(LAMB1):c.468T>C (p.Phe156=) rs149792171 0.00272
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) rs34150332 0.00242
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_002291.3(LAMB1):c.1590A>C (p.Ser530=) rs139481973 0.00175
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn) rs142386151 0.00147
NM_002291.3(LAMB1):c.1189+11A>G rs111256901 0.00145
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln) rs115518856 0.00126
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) rs139487685 0.00121
NM_002291.3(LAMB1):c.855A>G (p.Gly285=) rs140773514 0.00091
NM_002291.3(LAMB1):c.4176C>T (p.Ala1392=) rs143385719 0.00082
NM_002291.3(LAMB1):c.3594C>T (p.His1198=) rs566055806 0.00081
NM_002291.3(LAMB1):c.1483-14G>A rs115559402 0.00073
NM_002291.3(LAMB1):c.891C>T (p.His297=) rs146380871 0.00070
NM_002291.3(LAMB1):c.1593C>T (p.Cys531=) rs150514010 0.00060
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00054
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722 0.00043
NM_002291.3(LAMB1):c.1370-13T>G rs199712943 0.00041
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met) rs142742847 0.00022
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys) rs139568495 0.00015
NM_002291.3(LAMB1):c.3481C>T (p.Arg1161Cys) rs146018013 0.00014
NM_002291.3(LAMB1):c.4746-3C>A rs200654865 0.00012
NM_002291.3(LAMB1):c.5225-8C>A rs778153007 0.00009
NM_002291.3(LAMB1):c.3391+4A>C rs766051911 0.00004
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=) rs780369106
NM_002291.3(LAMB1):c.1985+11C>G rs192349543
NM_002291.3(LAMB1):c.3077G>A (p.Arg1026Gln) rs193010498
NM_002291.3(LAMB1):c.5225-22AT[8] rs113854298

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