ClinVar Miner

Variants from Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust with conflicting interpretations

Location: Norway  Primary collection method: research
Minimum review status of the submission from Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust: Collection method of the submission from Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust:
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
55 6 0 1 0 0 4 5

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
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust likely pathogenic uncertain significance likely benign
pathogenic 1 0 1
likely pathogenic 0 3 0
uncertain significance 1 0 0

Submitter to submitter summary #

Total submitters: 3
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
Molecular Genetics Laboratory, London Health Sciences Centre 0 3 0 1 0 0 2 3
Natera, Inc. 0 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 65 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
Single allele

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