ClinVar Miner

Variants from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine with conflicting interpretations

Location: Serbia  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine: Collection method of the submission from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine:
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
2 1 0 3 0 0 3 6

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 for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine pathogenic likely pathogenic uncertain significance
pathogenic 0 2 2
likely pathogenic 1 0 0
uncertain significance 1 0 0

Submitter to submitter summary #

Total submitters: 7
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 1 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Invitae 0 3 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn) rs11567847

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