ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7

Coded as:
Minimum review status of the submission for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7: Y axis collection method of the submission for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7:
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
240 59 0 37 39 0 16 74

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
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 2 0 1 0 0
uncertain significance 6 2 0 7 1
likely benign 3 0 17 0 1
benign 4 0 14 34 0

Condition to condition summary #

Total conditions: 16
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 19 0 30 6 0 0 36
not provided 0 51 0 11 24 0 2 34
Inherited Erythromelalgia 0 18 0 18 11 0 0 29
Generalized epilepsy with febrile seizures plus 0 18 0 17 11 0 0 28
Paroxysmal extreme pain disorder 0 19 0 17 11 0 1 28
Congenital Indifference to Pain 0 19 0 16 11 0 0 27
Familial Febrile Seizures 0 18 0 16 11 0 0 27
Severe myoclonic epilepsy in infancy 0 18 0 16 12 0 0 27
Small fiber neuropathy 0 18 0 16 11 0 3 27
Primary erythromelalgia 0 1 0 0 3 0 3 6
Rolandic epilepsy 0 0 0 0 0 0 5 5
Generalized epilepsy with febrile seizures plus, type 7 0 2 0 1 0 0 3 3
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 2 0 0 2
Febrile seizures, familial, 3b 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Hypoglycemia 0 0 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type IIA 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 74
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HGVS dbSNP
NM_002977.3(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_002977.3(SCN9A):c.1177C>T (p.Leu393=) rs184773311
NM_002977.3(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_002977.3(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_002977.3(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_002977.3(SCN9A):c.1314+1G>T
NM_002977.3(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_002977.3(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_002977.3(SCN9A):c.153T>A (p.Ser51Arg) rs199836776
NM_002977.3(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_002977.3(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_002977.3(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_002977.3(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_002977.3(SCN9A):c.1942-3delT rs35888674
NM_002977.3(SCN9A):c.1946C>T (p.Thr649Met) rs200965749
NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) rs200014315
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.2376T>C (p.Tyr792=) rs142219317
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.2428G>A (p.Val810Met) rs41268671
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.2686C>T (p.Arg896Trp) rs202152511
NM_002977.3(SCN9A):c.2733C>T (p.Arg911=) rs199653503
NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu) rs12478318
NM_002977.3(SCN9A):c.2931C>T (p.Leu977=) rs201430964
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) rs4369876
NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys) rs121908910
NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.3003A>G (p.Lys1001=) rs200375962
NM_002977.3(SCN9A):c.3018G>C (p.Lys1006Asn) rs147623238
NM_002977.3(SCN9A):c.3162C>T (p.Ser1054=) rs111674454
NM_002977.3(SCN9A):c.3296C>T (p.Ser1099Leu) rs145258166
NM_002977.3(SCN9A):c.3316G>T (p.Val1106Leu) rs200817435
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3369G>T (p.Leu1123Phe) rs200160858
NM_002977.3(SCN9A):c.3370C>T (p.Pro1124Ser) rs184563685
NM_002977.3(SCN9A):c.3473A>C (p.Asn1158Thr) rs151241025
NM_002977.3(SCN9A):c.3476T>C (p.Ile1159Thr) rs73019664
NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) rs77144869
NM_002977.3(SCN9A):c.3651T>C (p.Tyr1217=) rs144941725
NM_002977.3(SCN9A):c.3726T>C (p.Tyr1242=) rs201640757
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3769-8T>C rs76550960
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.4077T>C (p.Cys1359=) rs199673396
NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) rs188336294
NM_002977.3(SCN9A):c.4323C>T (p.Phe1441=) rs201145311
NM_002977.3(SCN9A):c.4470+1G>T rs746241591
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_002977.3(SCN9A):c.4612T>C (p.Trp1538Arg) rs202084411
NM_002977.3(SCN9A):c.4890T>C (p.Leu1630=) rs199550149
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) rs3750904
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.5758G>C (p.Asp1920His) rs200410805
NM_002977.3(SCN9A):c.5916C>G (p.Ser1972Arg) rs201640210
NM_002977.3(SCN9A):c.601T>G (p.Leu201Val) rs80356465
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_002977.3(SCN9A):c.688+9T>C rs188814235

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