ClinVar Miner

Variants with conflicting interpretations studied for Nephrotic syndrome, idiopathic, steroid-resistant

Coded as:
Minimum review status of the submission for Nephrotic syndrome, idiopathic, steroid-resistant: Y axis collection method of the submission for Nephrotic syndrome, idiopathic, steroid-resistant:
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
55 10 0 16 0 2 7 22

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, idiopathic, steroid-resistant pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 5 2 1 1 1
likely pathogenic 11 0 1 1 0 2
uncertain significance 3 1 0 0 0 0
benign 0 0 0 5 0 0

Condition to condition summary #

Total conditions: 6
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 provided 0 2 0 9 0 0 5 13
Nephrotic syndrome, idiopathic, steroid-resistant 77 3 0 5 0 0 2 7
Idiopathic nephrotic syndrome 0 0 0 3 0 0 3 6
Steroid-resistant nephrotic syndrome 0 3 0 5 0 0 1 6
Nephrotic syndrome, type 2, susceptibility to 0 0 0 0 0 2 0 2
Proteinuria 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_014625.3(NPHS2):c.-51G>T rs12406197
NM_014625.3(NPHS2):c.288C>T (p.Ser96=) rs3738423
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.538G>A (p.Val180Met) rs74315347
NM_014625.3(NPHS2):c.586C>T (p.Arg196Ter) rs12568913
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) rs778055996
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_144696.6(AXDND1):c.3032-1891_3032-1890del rs749740335
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_144696.6(AXDND1):c.3032-21A>T rs775006954
NM_144696.6(AXDND1):c.3032-3135del rs775170915
NM_144696.6(AXDND1):c.3032-3141G>A rs1410592
NM_144696.6(AXDND1):c.3032-3225T>C rs3818587
NM_144696.6(AXDND1):c.3032-32C>G rs369697947
NM_144696.6(AXDND1):c.3032-3539C>T rs2274623
NM_144696.6(AXDND1):c.3032-3597T>C rs2274622

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