ClinVar Miner

Variants from Laboratory of Human Genetics,Universidade de São Paulo with conflicting interpretations

Location: Brazil — Primary collection method: research
Minimum review status of the submission from Laboratory of Human Genetics,Universidade de São Paulo: Collection method of the submission from Laboratory of Human Genetics,Universidade de São Paulo:
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
21 2 0 4 0 0 2 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
Laboratory of Human Genetics,Universidade de São Paulo pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 1 1
likely pathogenic 2 0 0 0 0

Submitter to submitter summary #

Total submitters: 19
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
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 2 0 0 0 2
Invitae 0 0 0 0 0 0 1 1
Natera, Inc. 0 0 0 0 0 0 1 1
Mendelics 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Color Health, Inc 0 0 0 0 0 0 1 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 0 0 0 1 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 0 0 0 1 1
Phosphorus, Inc. 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 0 0 0 1 1
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558

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