ClinVar Miner

Variants from Department of Medical Genomics, Royal Prince Alfred Hospital with conflicting interpretations

Location: Australia  Primary collection method: clinical testing
Minimum review status of the submission from Department of Medical Genomics, Royal Prince Alfred Hospital: Collection method of the submission from Department of Medical Genomics, Royal Prince Alfred 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
10 0 0 1 1 0 2 3

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
Department of Medical Genomics, Royal Prince Alfred Hospital uncertain significance likely benign benign
likely pathogenic 2 0 1
benign 1 1 0

Submitter to submitter summary #

Total submitters: 10
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
Illumina Laboratory Services, Illumina 0 0 0 1 0 0 1 2
Invitae 0 0 0 0 0 0 1 1
Mendelics 0 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 0 0 1 1
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 0 0 0 0 0 1 1
Color Diagnostics, LLC DBA Color Health 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 0 0 1 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 0 0 0 1 1
All of Us Research Program, National Institutes of Health 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) rs531738678 0.00005

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