ClinVar Miner

Variants from Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital with conflicting interpretations

Location: Brazil  Primary collection method: research
Minimum review status of the submission from Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital: Collection method of the submission from Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital:
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
13 9 0 7 0 0 1 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
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital pathogenic likely pathogenic uncertain significance
pathogenic 0 6 0
likely pathogenic 1 0 1

Submitter to submitter summary #

Total submitters: 13
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
Genome-Nilou Lab 0 1 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 1 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 2 0 0 0 2
Baylor Genetics 0 2 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742

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