ClinVar Miner

Variants with conflicting interpretations studied for Inherited Erythromelalgia

Coded as:
Minimum review status of the submission for Inherited Erythromelalgia: Y axis collection method of the submission for Inherited Erythromelalgia:
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
0 108 0 32 24 0 7 50

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
Inherited Erythromelalgia pathogenic uncertain significance likely benign benign
uncertain significance 0 0 7 0
likely benign 7 16 0 19
benign 0 1 13 0

Condition to condition summary #

Total conditions: 11
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 14 0 25 6 0 0 31
not provided 0 23 0 17 16 0 0 28
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 9 0 3 7 0 0 10
Primary erythromelalgia 0 0 0 0 2 0 3 5
Small fiber neuropathy 0 153 0 0 0 0 3 3
Hereditary sensory and autonomic neuropathy type IIA 0 1 0 0 2 0 0 2
Rolandic epilepsy 0 0 0 0 0 0 2 2
Paroxysmal extreme pain disorder 0 155 0 0 0 0 1 1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 0 0 1
Seizures 0 0 0 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 155 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_002977.3(SCN9A):c.1942-3del rs35888674
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.4366-14G>T rs112927502
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579

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