ClinVar Miner

Variants from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust with conflicting interpretations

Location: United Kingdom — Primary collection method: clinical testing
Minimum review status of the submission from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust: Collection method of the submission from RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust:
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 Variants with at least 2 submissions 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 kind of conflict
2 6 0 6 0 0 0 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
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust pathogenic likely pathogenic
pathogenic 0 2
likely pathogenic 4 0

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
OMIM 0 2 0 4 0 0 0 4
Invitae 0 3 0 2 0 0 0 2
Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 1 0 0 0 1
Ambry Genetics 0 2 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 1 0 0 0 1
Nyegaard lab; Aarhus University 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_004572.3(PKP2):c.14delG (p.Gly5Alafs) rs397516996
NM_006888.5(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_176869.2(PPA2):c.182C>T (p.Ser61Phe) rs772083375
NM_176869.2(PPA2):c.380G>T (p.Arg127Leu) rs139076647

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