ClinVar Miner

Variants with conflicting interpretations studied for Nephrotic syndrome

Coded as:
Minimum review status of the submission for Nephrotic syndrome: Y axis collection method of the submission for 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 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
81 54 0 17 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.

All conditions
Nephrotic syndrome likely benign benign
uncertain significance 11 7
likely benign 0 17

Condition to condition summary #

Total conditions: 3
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 8 0 16 8 0 0 24
Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 0 6 0 6 8 0 0 14
not provided 0 7 0 6 2 0 0 8

All variants with conflicting interpretations #

Total variants: 33
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HGVS dbSNP
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885
NM_016341.4(PLCE1):c.2124G>A (p.Val708=) rs61751496
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=) rs201793869
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) rs61751497
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522
NM_016341.4(PLCE1):c.3183C>T (p.Pro1061=) rs367640320
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499
NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=) rs41291134
NM_016341.4(PLCE1):c.513G>A (p.Val171=) rs61749239
NM_016341.4(PLCE1):c.5458+7G>A rs17516758
NM_016341.4(PLCE1):c.5669C>T (p.Pro1890Leu) rs58539480
NM_016341.4(PLCE1):c.6342+13G>A rs75283731

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