ClinVar Miner

Variants with conflicting interpretations studied for Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma

Coded as:
Minimum review status of the submission for Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma: Y axis collection method of the submission for Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma:
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 67 3 19 10 0 14 41

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
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 3 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 4 7 2 3 1
likely benign 1 0 3 0 0
benign 0 0 3 7 1

Condition to condition summary #

Total conditions: 12
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
Hereditary cancer-predisposing syndrome 0 67 0 7 5 0 6 18
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 20 0 6 0 0 5 11
not provided 0 30 3 6 1 0 2 11
not specified 0 9 0 6 1 0 2 9
Cowden syndrome 0 8 0 1 4 0 1 6
Paragangliomas 4 0 18 0 3 2 0 1 6
Pheochromocytoma 0 10 0 6 0 0 0 6
Paraganglioma and gastric stromal sarcoma 0 5 0 5 0 0 0 5
SDHB-Related Disorders 0 0 0 2 0 0 0 2
Carney triad 0 0 0 1 0 0 0 1
Renal cell carcinoma, papillary, 1 0 0 0 0 1 0 0 1
Variant of unknown significance 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.143A>T (p.Asp48Val) rs202101384
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) rs34599281
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.200+5G>C rs1553178726
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) rs876658713
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.269G>A (p.Arg90Gln) rs570278423
NM_003000.2(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287-4T>C rs200419171
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.403G>A (p.Val135Met) rs201585157
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.423C>T (p.Pro141=) rs150542357
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.634C>T (p.Leu212Phe) rs1228560456
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.649C>G (p.Arg217Gly) rs200245469
NM_003000.2(SDHB):c.650G>A (p.Arg217His) rs747518441
NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) rs141230910
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289

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