ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
142 31 0 4 5 0 3 12

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 0 0
uncertain significance 0 0 0 1 1
likely benign 1 0 2 0 0
benign 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000104.3(CYP1B1):c.1169G>A (p.Arg390His) rs56010818
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_004006.2(DMD):c.9479G>A (p.Arg3160His) rs771392678
NM_005105.5(RBM8A):c.67+32G>C rs201779890
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668

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