ClinVar Miner

Variants with conflicting interpretations studied for Pleuropulmonary blastoma

Coded as:
Minimum review status of the submission for Pleuropulmonary blastoma: Y axis collection method of the submission for Pleuropulmonary blastoma:
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
67 19 0 15 11 0 0 25

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
Pleuropulmonary blastoma uncertain significance benign
uncertain significance 0 1
likely benign 10 15

Condition to condition summary #

Total conditions: 5
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
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 0 17 0 15 8 0 0 23
Hereditary cancer-predisposing syndrome 0 18 0 7 8 0 0 15
not specified 0 17 0 6 0 0 0 6
Neuroblastoma 0 0 0 0 1 0 0 1
not provided 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
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HGVS dbSNP
NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) rs148758903
NM_177438.2(DICER1):c.1377-4T>G rs192490028
NM_177438.2(DICER1):c.1381A>G (p.Ile461Val) rs141163928
NM_177438.2(DICER1):c.1510-4delT rs546524688
NM_177438.2(DICER1):c.1510-4dupT rs546524688
NM_177438.2(DICER1):c.1681A>G (p.Ile561Val) rs147493562
NM_177438.2(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750
NM_177438.2(DICER1):c.1887G>A (p.Thr629=) rs141651702
NM_177438.2(DICER1):c.1935G>A (p.Pro645=) rs61751177
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177438.2(DICER1):c.2370G>A (p.Arg790=) rs112712209
NM_177438.2(DICER1):c.2614G>A (p.Ala872Thr) rs149242330
NM_177438.2(DICER1):c.3094-8_3094-5delACTT rs770904411
NM_177438.2(DICER1):c.3198T>C (p.Thr1066=) rs114964211
NM_177438.2(DICER1):c.3334A>G (p.Asn1112Asp) rs587778229
NM_177438.2(DICER1):c.3674A>G (p.Tyr1225Cys) rs146584765
NM_177438.2(DICER1):c.3972G>A (p.Lys1324=) rs45562437
NM_177438.2(DICER1):c.4014G>A (p.Ala1338=) rs143454689
NM_177438.2(DICER1):c.4254_4256GGA[2] (p.Glu1420del) rs544960260
NM_177438.2(DICER1):c.4515T>C (p.Ser1505=) rs141308332
NM_177438.2(DICER1):c.4802A>T (p.Lys1601Met) rs181018393
NM_177438.2(DICER1):c.4819C>T (p.Arg1607Trp) rs189119295
NM_177438.2(DICER1):c.5145C>T (p.Leu1715=) rs139500905
NM_177438.2(DICER1):c.59C>T (p.Ala20Val) rs147660793
NM_177438.2(DICER1):c.773G>T (p.Gly258Val) rs188327838

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