ClinVar Miner

Variants from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences with conflicting interpretations

Location: Iran, Islamic Republic of — Primary collection method: research
Minimum review status of the submission from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences: Collection method of the submission from Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences:
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
11 1 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
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences likely pathogenic likely benign benign
pathogenic 7 1 1

Submitter to submitter summary #

Total submitters: 12
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
LDLR-LOVD, British Heart Foundation 0 2 0 6 0 0 0 6
Robarts Research Institute,Western University 0 0 0 4 0 0 0 4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 0 0 1 1
Invitae 0 2 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Color Health, Inc 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 2 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 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
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
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HGVS dbSNP
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.514G>C (p.Asp172His) rs879254554
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val)

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