ClinVar Miner

Variants with conflicting interpretations studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E

Coded as:
Minimum review status of the submission for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E: Y axis collection method of the submission for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E:
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
145 25 0 14 11 0 0 25

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
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E uncertain significance likely benign
uncertain significance 0 8
likely benign 3 0
benign 0 14

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
Focal segmental glomerulosclerosis 0 11 0 11 4 0 0 15
not specified 0 22 0 5 8 0 0 13
not provided 0 10 0 2 1 0 0 3

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1950-10C>T rs199987321
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.4(INF2):c.507+7G>A rs201568246
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736

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