ClinVar Miner

Variants from ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
14 116 0 19 25 0 15 56

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 submitters
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 0 0
likely pathogenic 11 0 5 0 0
uncertain significance 5 3 0 3 0
likely benign 0 0 20 0 2
benign 0 0 2 5 0

Submitter to submitter summary #

Total submitters: 8
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 119 0 12 20 0 8 40
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 15 0 2 0 0 5 7
Illumina Laboratory Services, Illumina 0 9 0 1 4 0 0 5
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota 0 6 0 2 0 0 2 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1 0 0 1
Mendelics 0 1 0 0 1 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_177438.3(DICER1):c.3269+14G>A rs201906274 0.00042
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00027
NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp) rs587778231 0.00019
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_177438.3(DICER1):c.4647C>T (p.His1549=) rs201415999 0.00013
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg) rs144259142 0.00006
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp) rs774271782 0.00004
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val) rs564224919 0.00004
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser) rs750932552 0.00004
NM_177438.3(DICER1):c.3811C>T (p.Leu1271Phe) rs1249975103 0.00004
NM_177438.3(DICER1):c.1583T>C (p.Ile528Thr) rs143099538 0.00003
NM_177438.3(DICER1):c.1423A>T (p.Ser475Cys) rs1060503594 0.00002
NM_177438.3(DICER1):c.184G>A (p.Val62Ile) rs746671039 0.00002
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile) rs1454569806 0.00002
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr) rs370947079 0.00002
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln) rs587778233 0.00002
NM_177438.3(DICER1):c.1802T>C (p.Ile601Thr) rs760966585 0.00001
NM_177438.3(DICER1):c.192A>T (p.Leu64Phe) rs1231822339 0.00001
NM_177438.3(DICER1):c.4189T>C (p.Trp1397Arg) rs762677393 0.00001
NM_177438.3(DICER1):c.4283T>A (p.Met1428Lys) rs996633792 0.00001
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu) rs1060503657 0.00001
NM_177438.3(DICER1):c.4945A>G (p.Met1649Val) rs146715213 0.00001
NM_177438.3(DICER1):c.5623G>A (p.Asp1875Asn) rs745601023 0.00001
NM_177438.3(DICER1):c.5626G>A (p.Gly1876Arg) rs770962059 0.00001
NM_177438.3(DICER1):c.742T>A (p.Ser248Thr) rs759633210 0.00001
NM_177438.3(DICER1):c.1089C>T (p.Phe363=) rs878855239
NM_177438.3(DICER1):c.145-4C>T rs1595466756
NM_177438.3(DICER1):c.1509+16A>G rs201947254
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp) rs1595414866
NM_177438.3(DICER1):c.1752+213A>G rs2543019173
NM_177438.3(DICER1):c.1907+3A>T rs759764582
NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.3(DICER1):c.2256+5G>A rs1595390864
NM_177438.3(DICER1):c.2256+5G>C rs1595390864
NM_177438.3(DICER1):c.2257-2A>G rs2140034081
NM_177438.3(DICER1):c.238G>T (p.Glu80Ter) rs1595466234
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe) rs387906934
NM_177438.3(DICER1):c.2642T>C (p.Leu881Pro) rs1595380007
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.4874C>A (p.Ser1625Tyr) rs864622653
NM_177438.3(DICER1):c.5096-12G>A rs1566750865
NM_177438.3(DICER1):c.5138A>T (p.Asp1713Val) rs1595331224
NM_177438.3(DICER1):c.5365-4A>G rs754838493
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5425G>C (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5428G>C (p.Asp1810His) rs775912475
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr) rs775912475
NM_177438.3(DICER1):c.5438A>C (p.Glu1813Ala) rs1889806272
NM_177438.3(DICER1):c.5438A>G (p.Glu1813Gly) rs1889806272
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr) rs1889802883
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) rs886037729
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.3(DICER1):c.734+3A>T rs377208116
NM_177438.3(DICER1):c.832C>T (p.Leu278Phe) rs768248216

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