ClinVar Miner

Variants from Centre for Genomic and Experimental Medicine,University of Edinburgh with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from Centre for Genomic and Experimental Medicine,University of Edinburgh: Collection method of the submission from Centre for Genomic and Experimental Medicine,University of Edinburgh:
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
82 5 0 5 0 0 3 8

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
Centre for Genomic and Experimental Medicine,University of Edinburgh pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 2 0 0
likely pathogenic 3 0 2 1

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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 2 0 0 1 3
Color Health, Inc 0 0 0 0 0 0 3 3
Counsyl 0 0 0 1 0 0 0 1
Invitae 0 5 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764

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