ClinVar Miner

Variants with conflicting interpretations studied for Neuroblastoma

Coded as:
Minimum review status of the submission for Neuroblastoma: Y axis collection method of the submission for Neuroblastoma:
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
19 184 4 40 8 6 5 57

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
Neuroblastoma pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 4 2 1 0 0 2
likely pathogenic 14 0 2 0 0 3
uncertain significance 1 2 0 7 2 0
likely benign 0 0 0 0 21 0
benign 0 0 0 3 0 0
other 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 21
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
Charcot-Marie-Tooth disease, type 2 0 129 0 17 4 0 0 21
not specified 0 4 0 10 3 0 1 14
Neuroblastoma 3 0 4 4 6 0 4 1 11
not provided 0 3 0 9 2 0 1 11
Hereditary cancer-predisposing syndrome 0 5 0 3 2 1 0 6
Juvenile myelomonocytic leukemia 0 0 0 3 0 0 0 3
Congenital central hypoventilation 0 38 0 2 0 0 0 2
Fanconi anemia, complementation group A 0 0 0 0 0 0 2 2
Hereditary breast and ovarian cancer syndrome 0 0 0 0 2 0 0 2
Li-Fraumeni syndrome 0 0 0 1 0 0 1 2
Breast-ovarian cancer, familial 2 0 0 0 0 1 0 0 1
Encephalocraniocutaneous lipomatosis 0 0 0 1 0 0 0 1
Ganglioneuroblastoma 0 0 0 0 0 0 1 1
Lung adenocarcinoma 0 15 0 1 0 0 0 1
Neoplasm of brain 0 9 0 1 0 0 0 1
Neoplasm of the breast 0 11 0 1 0 0 0 1
Neuroblastoma 1 0 0 0 0 0 1 0 1
Noonan syndrome 0 0 0 1 0 0 0 1
Pleuropulmonary blastoma 0 0 0 0 1 0 0 1
Rasopathy 0 2 0 1 0 0 0 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys) rs1555281730
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000135.3(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.3(FANCA):c.4261-2A>C rs915983602
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001042492.2(NF1):c.7190-19_7190-8delGTTTGTTTGTTT rs149197458
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_003924.3(PHOX2B):c.552C>T (p.Ser184=) rs17885216
NM_003924.3(PHOX2B):c.726A>G (p.Ala242=) rs757355779
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591
NM_004304.4(ALK):c.3271G>A (p.Asp1091Asn) rs864309584
NM_004304.4(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.4(ALK):c.3452C>T (p.Thr1151Met) rs113994091
NM_004304.4(ALK):c.3520T>C (p.Phe1174Leu) rs281864719
NM_004304.4(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.4(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.4(ALK):c.3522C>G (p.Phe1174Leu) rs863225281
NM_004304.4(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.4(ALK):c.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.4(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.4(ALK):c.3749T>C (p.Ile1250Thr) rs113994092
NM_004304.4(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) rs140015591
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) rs11121552
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dupA rs139613776
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) rs148758903

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