ClinVar Miner

Variants from Laboratory of Functional Genomics, Research Centre for Medical Genetics with conflicting interpretations

Location: Russian Federation  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Functional Genomics, Research Centre for Medical Genetics: Collection method of the submission from Laboratory of Functional Genomics, Research Centre for Medical Genetics:
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
33 2 0 2 1 0 2 4

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
Laboratory of Functional Genomics, Research Centre for Medical Genetics pathogenic likely pathogenic uncertain significance
pathogenic 0 1 0
likely pathogenic 1 0 2
likely benign 0 0 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
OMIM 0 0 0 1 0 0 0 1
Baylor Genetics 0 0 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 0 0 0 0 1 1
Invitae 0 0 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)

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