ClinVar Miner

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

Coded as:
Minimum review status of the submission for Charcot-Marie-Tooth disease, type I: Y axis collection method of the submission for Charcot-Marie-Tooth disease, type I:
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
217 77 4 24 15 0 6 46

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 I pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 6 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 2 4 0 10 1
likely benign 1 1 6 0 13
benign 0 0 2 8 0

Condition to condition summary #

Total conditions: 18
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 11 0 10 9 0 1 20
not provided 0 25 0 7 6 0 4 16
Charcot-Marie-Tooth disease, type I 328 4 0 6 2 0 0 8
Charcot-Marie-Tooth disease type 2E 0 1 0 4 1 0 0 5
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 15 1 2 0 0 0 3
Charcot-Marie-Tooth disease, type 1C 0 2 0 2 1 0 0 3
Charcot-Marie-Tooth disease, type IA 0 1 1 0 0 0 1 2
Hereditary liability to pressure palsies 0 21 0 1 1 0 1 2
Charcot-Marie-Tooth disease dominant intermediate 3 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b 0 1 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 0 2 0 1 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1d 0 1 1 0 0 0 0 1
Charcot-Marie-Tooth disease, type 1a, autosomal recessive 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth, Intermediate 0 22 0 1 0 0 0 1
Congenital hypomyelinating neuropathy 1, autosomal recessive 0 22 0 1 0 0 0 1
Decreased nerve conduction velocity; Sensory neuropathy; Pes cavus; Distal muscle weakness; Distal lower limb amyotrophy 0 0 0 1 0 0 0 1
Dejerine-Sottas disease 0 0 1 0 0 0 0 1
Roussy-Lévy syndrome 0 22 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_000304.2(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.3(PMP22):c.-34-5C>T rs375105159
NM_000304.3(PMP22):c.138delC (p.Ser47Glnfs) rs864622180
NM_000304.3(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.3(PMP22):c.177C>T (p.Asn59=) rs376797385
NM_000304.3(PMP22):c.320-4C>T rs377467465
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.3(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000304.3(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.3(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.3(PMP22):c.79-6C>T rs201682989
NM_000399.3(EGR2):c.1066G>C (p.Glu356Gln) rs751448371
NM_000399.3(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.3(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000399.3(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.3(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.4(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.4(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.4(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.4(EGR2):c.169+10G>T rs114201658
NM_000399.4(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000399.4(EGR2):c.909A>C (p.Ala303=) rs112474655
NM_000399.4(EGR2):c.909_911dup (p.Ala309_Tyr310insAla) rs746688326
NM_000530.6(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.6(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.6(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.6(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.7(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.7(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.7(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.7(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.7(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.7(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.7(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.7(MPZ):c.646-7C>G rs377495735
NM_004862.3(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_004862.3(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_004862.3(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_004862.3(LITAF):c.377+13C>G rs200357430
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239

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