ClinVar Miner

Variants with conflicting interpretations studied for Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome

Coded as:
Minimum review status of the submission for Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome: Collection method of the submission for Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome:
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
621 173 0 16 28 0 0 44

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
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 3 0 0 0 0
likely benign 0 0 23 0 6
benign 0 0 5 13 0

Condition to condition summary #

Total conditions: 2
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
Pierson syndrome 0 61 0 11 28 0 0 39
Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 696 133 0 9 0 0 0 9

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284 0.00173
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641 0.00159
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798 0.00034
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480 0.00016
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113 0.00009
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588 0.00006
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=) rs186771094 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002292.4(LAMB2):c.250-14C>T rs371403310 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.916-4A>G rs886058677

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