ClinVar Miner

Variants from ClinGen Myeloid Malignancy Variant Curation Expert Panel with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Myeloid Malignancy Variant Curation Expert Panel: Collection method of the submission from ClinGen Myeloid Malignancy Variant Curation Expert Panel:
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 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
319 57 0 10 8 0 2 20

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 Myeloid Malignancy Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 0 0 6 0
likely benign 0 0 1 0 2
benign 0 0 1 3 0

Submitter to submitter summary #

Total submitters: 6
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
Invitae 0 46 0 7 7 0 2 16
OMIM 0 7 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 17 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Department of Hematology - Research Laboratory 1, Postgraduate Institute of Medical Education and Research 0 0 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.654C>T (p.Ser218=) rs145230602 0.00063
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_001754.5(RUNX1):c.18A>G (p.Ile6Met) rs199929612 0.00005
NM_001754.4(RUNX1):c.97+4T>G rs754042987 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_001754.5(RUNX1):c.1257G>A (p.Val419=) rs1172332120 0.00003
NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys) rs749430925 0.00002
NM_001754.5(RUNX1):c.96C>T (p.His32=) rs748758482 0.00002
NM_001754.5(RUNX1):c.111C>T (p.Ser37=) rs1555899908 0.00001
NM_001754.5(RUNX1):c.714C>T (p.Val238=) rs776056802 0.00001
NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu) rs201164283 0.00001
NC_000021.9:g.(?_34787801)_(34799462_?)del
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+5T>C rs1555899712
NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984

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