ClinVar Miner

Variants with conflicting interpretations studied for Charcot-Marie-Tooth disease type 4

Coded as:
Minimum review status of the submission for Charcot-Marie-Tooth disease type 4: Collection method of the submission for Charcot-Marie-Tooth disease type 4:
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
5470 35 0 2 17 0 3 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
Charcot-Marie-Tooth disease type 4 pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0
uncertain significance 3 0 14 3
likely benign 0 14 0 2
benign 0 3 2 0

Condition to condition summary #

Total conditions: 1
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
Charcot-Marie-Tooth disease type 4 5470 35 0 2 17 0 3 22

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 0.00036
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=) rs750369546 0.00014
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) rs200328537 0.00006
NM_006096.4(NDRG1):c.42G>A (p.Lys14=) rs753261868 0.00003
NM_006096.4(NDRG1):c.141G>A (p.Thr47=) rs750933446 0.00002
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.766C>T (p.Leu256=) rs898573925 0.00001
NM_006096.4(NDRG1):c.855+14_855+15del rs780070007 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.666C>A (p.Gly222=) rs1432095364
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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